1. Gene
  2. CYP11B1 - cytochrome P450 family 11 subfamily B member 1 Gene

CYP11B1 - cytochrome P450 family 11 subfamily B member 1 Gene

中文名称:细胞色素 P450 家族 11 亚家族 B 成员 1

种属: Homo sapiens

同用名: FHI; CPN1; CYP11B; P450C11

基因 ID: 1584 | 基因类型: protein coding

关于 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).

功能概要

该基因编码细胞色素 P450 酶超家族的成员。细胞色素 P450 蛋白是单加氧酶,可催化许多涉及药物代谢和胆固醇、类固醇和其他脂质合成的反应。这种蛋白质定位于线粒体内膜,并参与肾上腺皮质中黄体酮向皮质醇的转化。由于 11-β-羟化酶缺乏,该基因突变会导致先天性肾上腺增生。已经注意到该基因编码不同亚型的转录变体。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables steroid 11-beta-monooxygenase activity IDA
IDA: 通过直接分析推断
2256920 GOA
enables steroid 11-beta-monooxygenase activity IMP
IMP: 通过突变表型推断
2022736 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in C21-steroid hormone biosynthetic process IDA
IDA: 通过直接分析推断
2256920 GOA
involved in aldosterone biosynthetic process IDA
IDA: 通过直接分析推断
2256920 GOA
involved in aldosterone biosynthetic process IMP
IMP: 通过突变表型推断
19342457 GOA
involved in cellular response to hormone stimulus IEP
IEP: 通过表达模式推断
19342457 GOA
involved in cellular response to potassium ion IEP
IEP: 通过表达模式推断
19342457 GOA
involved in cortisol biosynthetic process IDA
IDA: 通过直接分析推断
8506298 GOA
involved in cortisol biosynthetic process IMP
IMP: 通过突变表型推断
2022736 GOA
involved in regulation of blood pressure IMP
IMP: 通过突变表型推断
2022736 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
2256920 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CYP11B1 蛋白结构

p450

p450: Cytochrome P450 (42 - 489)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 503 a.a.
蛋白主名 其他名称

cytochrome P450 11B1, mitochondrial

cytochrome P-450c11

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta CYP11B1 VGNC VGNC:103618
Rattus norvegicus CYP11B1 RGD RGD:2454