1. Gene
  2. HSD11B1 - hydroxysteroid 11-beta dehydrogenase 1 Gene

HSD11B1 - hydroxysteroid 11-beta dehydrogenase 1 Gene

Homo sapiens

Also known as HDL; 11-DH; HSD11; HSD11B; HSD11L; CORTRD2; SDR26C1; 11-beta-HSD1

Gene ID: 3290 | Gene type: protein coding

About HSD11B1

Cytogenetic location: 1q32.2 Genomic coordinates (GRCh38): 1:209,686,179-209,734,929 (from NCBI)

This gene has 4 transcripts (splice variants), 267 orthologues, 13 paralogues and is associated with 2 phenotypes. Biased expression in liver (RPKM 186.4), placenta (RPKM 27.2) and 1 other tissue.

Summary

The protein encoded by this gene is a microsomal Enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse reaction, the conversion of cortisone to cortisol. Too much cortisol can lead to central obesity, and a particular variation in this gene has been associated with obesity and Insulin resistance in children. Mutations in this gene and H6PD (hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)) are the cause of cortisone reductase deficiency. Alternate splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2011]

HSD11B1 Products(3)

mRNA Protein Name
NM_001206741.2 NP_001193670.1 11-beta-hydroxysteroid dehydrogenase 1
NM_005525.4 NP_005516.1 11-beta-hydroxysteroid dehydrogenase 1
NM_181755.3 NP_861420.1 11-beta-hydroxysteroid dehydrogenase 1
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables 11-beta-hydroxysteroid dehydrogenase (NADP+) activity IDA
IDA: Inferred from direct assay
10497248 GOA
enables NADP binding IDA
IDA: Inferred from direct assay
15513927 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
15513927 GOA
Cellular Component GO Annotation Evidence Reference Source
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
10497248 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

HSD11B1 Protein Structure

adh_short

adh_short: short chain dehydrogenase (36 - 201)

  • 0
  • 100
  • 200
  • 292 a.a.
Protein Preferred Names Protein Names

11-beta-hydroxysteroid dehydrogenase 1

7-oxosteroid reductase

Recombinant HSD11B1 Proteins

Cat. No. Product Name Accession Purity
HY-P72237 HSD11B1 Protein, Human (His-SUMO) P28845 (E25-K292) ≥95%

Related Diseases

Diseases Alias
Cortisone Reductase Deficiency 2

CORTRD2

Hyperandrogenism Due To Cortisone Reductase Deficiency

11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 1

Cortisone Reductase Deficiency

11-Alpha Beta-Hydroxysteroid Dehydrogenase Type I Deficiency Of

Cortrd

Hsd 11b1 Deficiency

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

Abdominal Obesity-Metabolic Syndrome 1

Metabolic Syndrome X

Metabolic Syndrome

AOMS1

Dysmetabolic Syndrome X

Metabolic Disease

Abdominal Obesity Metabolic Syndrome

Hyperandrogenism

Hyperandrogenization Syndrome

Intracranial Hypertension

Raised Intracranial Pressure

Hypopituitarism

Pituitary Hypofunction

Pituitary Insufficiency

Pituitary Hormone Deficiency

Subpituitarism

Hypophyseal Dystrophy

Hypohypophysism

Anterior Pituitary Insufficiency

Deficient Secretion Of One Or More Pituitary Hormones

Hypopituitarism Syndrome

Pituitary Deficiency

Pituitary Failure

Pituitary Insufficiency Nos

Anterior Pituitary Hypofunction

Deficient Secretion Of All Pituitary Hormones

Hypopituitary Dwarfism

Hyposomatotropic Dwarfism

Hypophyseal Dwarfism

Hypopituitary Cachexia

Hypophyseal Short Stature

Panhypopituitarism Syndrome

Pituitary Cachexia

Juvenile Hypopituitarism

Pituitary Dwarfism

Pituitary Gland Hypofunction

Primary Hypopituitarism

Secondary Hypogonadism

Prepubertal Panhypopituitarism

Prepubertal Dwarfism

Postpartum Panhypopituitary Syndrome

Postpartum Hypopituitarism

Pituitary Short Stature

Pituitary Infantilism

Pituitary Hypogonadism

Pituitary Hypoadrenocorticism

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

Polycystic Ovary Syndrome

Polycystic Ovarian Syndrome

Pcos

Polycystic Ovarian Disease

Polycystic Ovaries

Stein-Leventhal Syndrome

Multicystic Ovaries

Polycystic Ovary

Sclerocystic Ovaries

Sclerocystic Ovary Syndrome

Stein-Leventhal Synd.

Cystic Disease Of Ovaries

Cystic Disease Of Ovary

Pco

Pcod

Sclerocystic Ovarian Degeneration

Polycystic Ovary Syndrome, Susceptibility To

Pcos - [Polycystic Ovary Syndrome]

Polycystic Ovary Nos

Pco - [Polycystic Ovary]

Adrenal Adenoma

Adenoma Of The Adrenal Gland

Adrenal Incidentaloma

Adrenal Cortical Adenoma

Adrenocortical Adenoma

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

Acromegaly

Gigantism

Growth Hormone Excess

Pituitary Giant

Somatotroph Adenoma

Growth Hormone-Secreting Pituitary Adenoma

Ocular Hypertension

Hypertension, Ocular

Intraocular Pressure Increase

Oh - [Ocular Hypertension]

Oht - [Ocular Hypertension]

Intracranial Hypertension, Idiopathic

Pseudotumor Cerebri

Idiopathic Intracranial Hypertension

Benign Intracranial Hypertension

Iih

Benign Intracran. Hypt.

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

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

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

Glucocorticoid-Induced Osteoporosis

Steroid-Induced Osteoporosis

Adrenal Gland Disease

Adrenal Gland Diseases

Adrenal Gland Disorders

Steroid Inherited Metabolic Disorder

Steroid Metabolism, Inborn Errors

Diabetes Mellitus

Diabetes

Asperger Syndrome

Asperger Disorder

Asperger Syndrome, Susceptibility To

Cardiovascular System Disease

Abnormality Of The Cardiovascular System

Cardiovascular Disease

Disease Of Subdivision Of Hemolymphoid System

Disorder Of Cardiovascular System

Cardiovascular Diseases

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

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

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

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus HSD11B1 RGD RGD:2834
Felis catus HSD11B1 VGNC VGNC:67654
Canis familiaris HSD11B1 VGNC VGNC:41797
Macaca mulatta HSD11B1 VGNC VGNC:106383
Mus musculus HSD11B1 MGD MGI:103562
Bos taurus HSD11B1 VGNC VGNC:29965
Others HSD11B1 NCBI