HSD11B1 - hydroxysteroid 11-beta dehydrogenase 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3290

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	References	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	References	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)	≥ 90%, as determined by reducing SDS-PAGE.

HSD11B1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83631	HSD11B1 Antibody (YA3376)	WB, IHC-P	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-167696	11β-HSD1-IN-16	Inhibitor	99.03%	Unkown
HY-RS06387	HSD11B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20631	Hsd11b1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27140	Hsd11b1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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