CYP11B1 - cytochrome P450 family 11 subfamily B member 1 Gene

Also Known as FHI; CPN1; CYP11B; P450C11

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 1584

About CYP11B1

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:142,872,357-142,879,825 (from NCBI)

This gene has 5 transcripts (splice variants), 33 orthologues, 2 paralogues and is associated with 4 phenotypes. Restricted expression toward adrenal (RPKM 1098.5).

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 protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

CYP11B1 Products (2)

mRNA	Protein	Name
NM_000497.4	NP_000488.3	cytochrome P450 11B1, mitochondrial isoform 1 precursor
NM_001026213.1	NP_001021384.1	cytochrome P450 11B1, mitochondrial isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables steroid 11-beta-monooxygenase activity	IDA IDA: Inferred from direct assay	2256920	GOA
enables steroid 11-beta-monooxygenase activity	IMP IMP: Inferred from mutant phenotype	2022736	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in C21-steroid hormone biosynthetic process	IDA IDA: Inferred from direct assay	2256920	GOA
involved in aldosterone biosynthetic process	IDA IDA: Inferred from direct assay	2256920	GOA
involved in aldosterone biosynthetic process	IMP IMP: Inferred from mutant phenotype	19342457	GOA
involved in cellular response to hormone stimulus	IEP IEP: Inferred from expression pattern	19342457	GOA
involved in cellular response to potassium ion	IEP IEP: Inferred from expression pattern	19342457	GOA
involved in cortisol biosynthetic process	IDA IDA: Inferred from direct assay	8506298	GOA
involved in cortisol biosynthetic process	IMP IMP: Inferred from mutant phenotype	2022736	GOA
involved in regulation of blood pressure	IMP IMP: Inferred from mutant phenotype	2022736	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in mitochondrion	IDA IDA: Inferred from direct assay	2256920	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

CYP11B1 Protein Structure

p450

0
100
200
300
400
503 a.a.

Protein Preferred Names	Protein Names
cytochrome P450 11B1, mitochondrial	cytochrome P-450c11

関連疾患

Diseases	Alias
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency 11-Beta-Hydroxylase Deficiency P450c11b1 Deficiency Deficiency Of Steroid 11-Beta-Monooxygenase Adrenal Hyperplasia Iv Steroid 11-Beta-Hydroxylase Deficiency Adrenal Hyperplasia, Hypertensive Form Adrenal Hyperplasia, Congenital, Due To 11-Beta-Hydroxylase Deficiency Adrenal Hyperplasia 4 Cah Due To 11-Beta-Hydroxylase Deficiency Cyp11b1 Deficiency 11 Beta Hydroxylase Deficiency Adrenal Hyperplasia Hypertensive Form 11b Hydroxylase Deficiency Steroid 11 Beta Hydroxylase Deficiency AH4 Adrenal Hyperplasia Type Iv Ah-Iv Steroid 11-Beta-Monooxygenase Deficiency
Hyperaldosteronism, Familial, Type I	Glucocorticoid-Remediable Aldosteronism Gra Familial Hyperaldosteronism Type 1 Hyperaldosteronism, Familial Type 1 HALD1 Fh I Glucocorticoid-Suppressible Hyperaldosteronism Gsh Acth-Dependent Hyperaldosteronism Syndrome Aldosteronism, Glucocorticoid-Remediable Dexamethasone Sensitive Hypertension Glucocorticoid Sensitive Hypertension Familial Hyperaldosteronism Type I Fh1 Aldosteronism, Sensitive To Dexamethasone Dexamethasone-Sensitive Hypertension Fh-I Glucocorticoid-Sensitive Hypertension Hyperaldosteronism, Familial, 1 Aldosteronism Sensitive To Dexamethasone Familial Hyperaldosteronism 1 Fh Type 1 Familial Aldosteronism Type I
Lipoid Congenital Adrenal Hyperplasia	Congenital Adrenal Hyperplasia Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency Congenital Lipoid Adrenal Hyperplasia Lipoid Cah Lipoid Adrenal Hyperplasia Adrenal Hyperplasia 1 Cah Clah LCAH Adrenal Hyperplasia I Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism Congenital Adrenal Hyperplasia Lipoid Adrenal Hyperplasia, Congenital Congenital Adrenal Hyperplasia, Lipoid AH1 Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism Adrenal Hyperplasia Congenital Hyperplasia, Adrenal, Lipoid, Congenital Congenital Adrenogenital Disorders Associated With Enzyme Deficiency Congenital Adrenal Cortical Hyperplasia Congenital Adrenal Gland Hyperplasia Congenital Adrenogenital Syndrome Congenital Hyperadrenocorticism Congenital Adrenogenitalism Congenital Female Adrenal Pseudohermaphroditism
Conn'S Syndrome	Cushing Syndrome Hyperaldosteronism Primary Hyperaldosteronism Hypercortisolism Primary Aldosteronism Cushing'S Syndrome Adrenal Gland Hyperfunction Conn Syndrome Hyperadrenalism Ectopic Acth Syndrome Hyperadrenocorticism Cushing Disease Cushing'S Disease Adrenal Cortex Adenoma Corticotroph Pituitary Adenoma Pituitary Corticotroph Micro-Adenoma Pituitary-Dependent Cushing Syndrome Pituitary Acth Hypersecretion Acth Syndrome, Ectopic Acth-Secreting Pituitary Adenoma Adrenal Hyperfunction Resulting From Pituitary Acth Excess Ectopic Adrenocorticotropic Hormone Syndrome Nodular Primary Adrenocortical Dysplasia Pituitary Dependent Cushing Syndrome Pituitary Cushing Syndrome Pituitary-Dependant Cushing Syndrome Pituitary-Dependant Hypercortisolism Pituitary-Dependant Hypercortisolism Disorder Aldosteronism Primary Acth Syndrome Ectopic Adrenal Cushing'S Syndrome Adrenal Cortical Adenoma Cushing Syndrome Nos Cortisol Hypersecretion Corticoadrenal Hypersecretion Cushing Syndrome Secondary To Ectopic Acth-Secretion Ectopic Cushing Syndrome Hypercortisolism Due To Nonpituitary Tumour Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome Idiopathic Aldosteronism Aldosteronism Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia Primary Aldosteronism Due To Adrenal Hyperplasia
Adrenal Adenoma	Adenoma Of The Adrenal Gland Adrenal Incidentaloma Adrenal Cortical Adenoma Adrenocortical Adenoma
Adrenal Cortical Adenoma	Adrenocortical Adenoma Adenoma Adrenocortical
Adrenal Carcinoma	Adrenal Cancer Adrenal Gland Cancer Malignant Neoplasm Of Adrenal Gland Adrenal Gland Neoplasms Carcinoma Of The Adrenal Gland Adrenal Neoplasm Malignant Adrenal Tumor Neoplasm Of Adrenal Gland Tumor Of The Adrenal Gland Adrenal Gland Neoplasm Adrenocortical Carcinoma Adrenal Gland Malignancy Suprarenal Cancer Malignant Neoplasm Of Suprarenal Gland Malignant Neoplasm Of Adrenal Gland, Unspecified Malignant Tumour Of Adrenal Gland Suprarenal Gland Cancer Primary Malignant Neoplasm Of Adrenal Gland
Steroid Inherited Metabolic Disorder	Steroid Metabolism, Inborn Errors
Adenoma	Acinar Cell Adenoma Adenomas Acinic Cell Adenoma
Corticosterone Methyloxidase Type I Deficiency	Cmo I Deficiency Aldosterone Deficiency I Aldosterone Deficiency Due To Defect In Steroid 18-Hydroxylase 18-Hydroxylase Deficiency Hypoaldosteronism, Congenital, Due To Cmo I Deficiency Corticosterone Methyloxidase Deficiency 1 Corticosterone Methyloxidase Type 1 Deficiency Hyperreninemic Hypoaldosteronism, Familial, 1 Fhha1a Steroid 18-Hydroxylase Deficiency Aldosterone Synthase Deficiency 18 Hydroxylase Deficiency 18 Alpha Hydroxylase Deficiency Aldosterone Deficiency 1 Aldosterone Deficiency Due To Defect In 18 Hydroxylase Cmo 1 Deficiency Corticosterone Methyloxidase 1 Deficiency CMO-1 DEFICIENCY Aldosterone Deficiency Due To Defect In 18-Hydroxylase Corticosterone Methyl Oxidase Type I Deficiency Corticosterone Methyl Oxidase Type Ii Deficiency
Hypokalemia	Potassium Deficiency Potassium Deficiency Disorder Hypopotassemia Potassium Potassium [K] Deficiency Hypokalaemic Syndrome Hypopotassaemia Hypopotassaemia Syndrome Hypokalaemic Potassium Depletion
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Adrenal Gland Disease	Adrenal Gland Diseases Adrenal Gland Disorders
Adrenal Rest Tumor	Adrenal Rest Neoplasm
Asperger Syndrome	Asperger Disorder Asperger Syndrome, Susceptibility To
Adrenal Cortical Carcinoma	Adrenocortical Carcinoma Adrenal Cortex Carcinoma Carcinoma Of The Adrenal Cortex Acc Adrenocortical Cancer Carcinoma Adrenocortical
Apparent Mineralocorticoid Excess	Cortisol 11-Beta-Ketoreductase Deficiency Apparent Mineralocorticoid Excess Syndrome AME Ame1 11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2 Ulick Syndrome Mineralocorticoid Excess Syndrome, Apparent Syndrome Of Apparent Mineralocorticoid Excess Ame 1 11 Beta Hydroxysteroid Dehydrogenase Type 2 Deficiency
Adrenal Cortex Disease	Adrenal Cortex Diseases
Cytochrome P450 Oxidoreductase Deficiency	Por Deficiency Pord Antley-Bixler Syndrome With Disordered Steroidogenesis Antley-Bixler Syndrome Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis Combined Partial Deficiency Of 17-Hydroxylase And 21-Hydroxylase Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 And P450c21 Deficiency Antley-Bixler Syndrome, Autosomal Dominant
46,Xy Sex Reversal 2	Dosage-Sensitive Sex Reversal Dss SRXY2 46,Xy Sex Reversal, Dax1-Related 46xy Sex Reversal 2, Dosage-Sensitive 46,Xy Sex Reversal Dax1-Related
Acth-Independent Macronodular Adrenal Hyperplasia	Acth-Independent Macronodular Adrenocortical Hyperplasia Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia Corticotropin-Independent Macronodular Adrenal Hyperplasia Cushing Syndrome Due To Macronodular Adrenal Hyperplasia AIMAH1 Aimah Massive Macronodular Adrenocortical Disease Mmad Primary Macronodular Adrenal Hyperplasia Cushing Syndrome, Adrenal, Due To Aimah Primary Bilateral Macronodular Adrenal Hyperplasia Acth-Independent Macronodular Adrenal Hyperplasia 1 Acth-Independent Cushing Syndrome Adrenal Cushing Syndrome Due To Aimah Acth-Independent Macronodular Adrenal Hyperplasia 2
Cortisone Reductase Deficiency	11-Alpha Beta-Hydroxysteroid Dehydrogenase Type I Deficiency Of Cortrd Hsd 11b1 Deficiency
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	P450scc Deficiency Congenital Adrenal Insufficiency Adrenal Insufficiency, Congenital, With 46xy Sex Reversal, Partial Or Complete 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11a1 Deficiency Xy Sex Reversal-Adrenal Failure Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal AICSR Adrenal Insufficiency Congenital With 46,Xy Sex Reversal Partial Or Complete Adrenal Insufficiency, Congenital Congenital Adrenal Hyperplasia Adrenogenital Syndrome
Lobomycosis	Cutaneous Blastomycosis Cutaneous Lobomycosis Infection By Loboa Loboi Lobo Disease
Familial Glucocorticoid Deficiency	Glucocorticoid Deficiency Acth Resistance Adrenal Unresponsiveness To Acth Hereditary Unresponsiveness To Adrenocorticotropic Hormone Isolated Glucocorticoid Deficiency Glucocorticoid Deficiency, Familial Glucocorticoid Deficiency 1
Primary Pigmented Nodular Adrenocortical Disease	Ppnad Primary Pigmented Nodular Adrenal Dysplasia Pigmented Nodular Adrenocortical Disease, Primary, 2 Pigmented Nodular Adrenocortical Disease, Primary, 1
Liddle Syndrome 1	Liddle Syndrome Pseudoaldosteronism Liddle'S Syndrome LIDLS1 Lidls Pseudohyperaldosteronism Pseudoprimary Hyperaldosteronism Pseudohyperaldosteronism Type 1 Liddles Syndrome
46,Xy Sex Reversal	Swyer Syndrome Pure Gonadal Dysgenesis 46,Xy Gonadal Dysgenesis, Xy Female Type Gonadal Dysgenesis, 46,Xy 46,Xy Cgd 46,Xy Complete Gonadal Dysgenesis 46,Xy Pure Gonadal Dysgenesis 46 Xy Gonadal Dysgenesis 46, Xy Cgd 46, Xy Complete Gonadal Dysgenesis 46, Xy Pure Gonadal Dysgenesis Xy Pure Gonadal Dysgenesis Female With 46,Xy Karyotype Xy Females
Endocrine Organ Benign Neoplasm
Carney Complex Variant	Carney Complex Carney Syndrome Carney Complex, Type 1 Lamb Syndrome Name Syndrome Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome Carney Complex - Trismus - Pseudocamptodactyly Syndrome Carney Complex, Type 2 Car Cnc1 Carney Myxoma-Endocrine Complex Myxoma - Spotty Pigmentation - Endocrine Overactivity Myxoma, Spotty Pigmentation, And Endocrine Overactivity Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome Carney Complex-Trismus-Pseudocamptodactyly Syndrome CACOV
Pseudohermaphroditism	Indeterminate Sex And Pseudohermaphroditism
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
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

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 (2)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-16276	Osilodrostat	Inhibitor	99.90%	Yes
HY-16276A	Osilodrostat phosphate	Inhibitor	98.83%	Yes

Clinical Phase

Bioactive Molecules (2)

製品番号	製品名	製品効果	純度	Phase
HY-B0105B	Levoketoconazole	Inhibitor	99.82%	Phase 3
HY-113986	Dexfadrostat	Inhibitor	98.75%	Phase 2

Pre-clinical Phase

Bioactive Molecules (13)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-135794	11-Ketodihydrotestosterone	Agonist	99.87%	Unkown
HY-163689	Vicadrostat	Inhibitor	98.67%	Unkown
HY-101217	BI 689648	Inhibitor	99.20%	Unkown
HY-135281	CYP11B2-IN-1	Inhibitor	99.83%	Unkown
HY-113986C	Dexfadrostat hydrochloride	Inhibitor	/	Unkown
HY-122744	CYP11B1-IN-1	Inhibitor	/	Unkown
HY-151140	CYP11B1-IN-2	Inhibitor	/	Unkown
HY-176480	CYP11B2-IN-3	Inhibitor	/	Unkown
HY-RS03435	CYP11B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-116666	Etomidate acid		/	Unkown
HY-163751	STING-IN-9	Inhibitor	/	Unkown
HY-RS17315	Cyp11b1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23770	Cyp11b1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Macaca mulatta	CYP11B1	VGNC	VGNC:103618
Rattus norvegicus	CYP11B1	RGD	RGD:2454
Others	CYP11B1	NCBI