HSD11B1 (hydroxysteroid 11-beta dehydrogenase 1)

2007-02-01  

Identity

HGNC
HSD11B1
LOCATION
1q32.2
LOCUSID
3290
ALIAS
11-DH,11-beta-HSD1,CORTRD2,HDL,HSD11,HSD11B,HSD11L,SDR26C1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3290
MIM: 600713
HGNC: 5208
Ensembl: ENSG00000117594

Variants:

dbSNP: 3290
ClinVar: 3290
TCGA: ENSG00000117594
COSMIC: HSD11B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117594ENST00000261465A0A0A0MQV1
ENSG00000117594ENST00000367027P28845
ENSG00000117594ENST00000367027X5D2L1
ENSG00000117594ENST00000367028P28845
ENSG00000117594ENST00000367028X5D2L1
ENSG00000117594ENST00000615289A0A087WU76

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Steroid hormone biosynthesisKEGGko00140
Metabolism of xenobiotics by cytochrome P450KEGGko00980
Steroid hormone biosynthesisKEGGhsa00140
Metabolism of xenobiotics by cytochrome P450KEGGhsa00980
Metabolic pathwaysKEGGhsa01100
C21-Steroid hormone biosynthesis, progesterone => cortisol/cortisoneKEGGhsa_M00109
C21-Steroid hormone biosynthesis, progesterone => cortisol/cortisoneKEGGM00109
Chemical carcinogenesisKEGGhsa05204
Chemical carcinogenesisKEGGko05204
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Metabolism of steroid hormonesREACTOMER-HSA-196071
Glucocorticoid biosynthesisREACTOMER-HSA-194002

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA165817016Kidney TransplantationDiseaseClinicalAnnotationassociatedPK25587129
PA451578tacrolimusChemicalClinicalAnnotationassociatedPK25587129

References

Pubmed IDYearTitleCitations
372802722023Hyperglycemia-activated 11β-hydroxysteroid dehydrogenase type 1 increases endoplasmic reticulum stress and skin barrier dysfunction.1
378553662023G6PC1 and G6PC2 influence G6P flux but not HSD11B1 activity.1
37943405202311-beta-hydroxysteroid dehydrogenase type 1 (HSD11B1) gene expression in muscle is linked to reduced skeletal muscle index in sarcopenic patients.0
372802722023Hyperglycemia-activated 11β-hydroxysteroid dehydrogenase type 1 increases endoplasmic reticulum stress and skin barrier dysfunction.1
378553662023G6PC1 and G6PC2 influence G6P flux but not HSD11B1 activity.1
37943405202311-beta-hydroxysteroid dehydrogenase type 1 (HSD11B1) gene expression in muscle is linked to reduced skeletal muscle index in sarcopenic patients.0
364467662022Inhibition of 11β-hydroxysteroid dehydrogenase 1 relieves fibrosis through depolarizing of hepatic stellate cell in NASH.4
364467662022Inhibition of 11β-hydroxysteroid dehydrogenase 1 relieves fibrosis through depolarizing of hepatic stellate cell in NASH.4
323608702021Lack of association of the 11 beta-hydroxysteroid dehydrogenase type 1 gene 25669dupA polymorphism with obesity and metabolic syndrome.0
324534742021Variants in HSD11B1 gene modulate susceptibility to diabetes kidney disease and to insulin resistance in type 1 diabetes.3
328807102021Influence of labor on direct and indirect determinants of placental 11beta-hydroxysteroid dehydrogenase activity.1
336392362021The rise in expression and activity of 11β-HSD1 in human mesenchymal progenitor cells induces adipogenesis through increased local cortisol synthesis.4
337225342021Addressing the role of 11β-hydroxysteroid dehydrogenase type 1 in the development of polycystic ovary syndrome and the putative therapeutic effects of its selective inhibition in a preclinical model.6
340722392021Increased Expression of 11β-Hydroxysteroid Dehydrogenase Type 1 Contributes to Epidermal Permeability Barrier Dysfunction in Aged Skin.5
346394702021Association between Selected Polymorphisms rs12086634, rs846910, rs4844880, rs3753519 of 11β-Hydroxysteroid Dehydrogenase Type 1 (HSD11B1) and the Presence of Insulin Resistance in the Polish Population of People Living in Upper Silesia.0

Citation

Dessen P

HSD11B1 (hydroxysteroid 11-beta dehydrogenase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46584/hsd11b1-(hydroxysteroid-11-beta-dehydrogenase-1)