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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-167696	11β-HSD1-IN-16		/	Unkown
HY-RS06387	HSD11B1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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