HSD11B1 (hydroxysteroid 11-beta dehydrogenase 1)

2007-02-01  

Identity

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

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

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA165817016Kidney TransplantationDiseaseClinicalAnnotationassociatedPK25587129
PA451578tacrolimusChemicalClinicalAnnotationassociatedPK25587129

References

Pubmed IDYearTitleCitations
195982352009Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.92
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
128581762003Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.50
152800302004Hexose-6-phosphate dehydrogenase determines the reaction direction of 11beta-hydroxysteroid dehydrogenase type 1 as an oxoreductase.45
241490702013Switch of glycolysis to gluconeogenesis by dexamethasone for treatment of hepatocarcinoma.44
207399462011Localization, age- and site-dependent expression, and regulation of 11β-hydroxysteroid dehydrogenase type 1 in skin.43
19675138200911beta-hydroxysteroid dehydrogenase type 1 regulates glucocorticoid-induced insulin resistance in skeletal muscle.41
127888822003Subcutaneous adipose 11 beta-hydroxysteroid dehydrogenase type 1 activity and messenger ribonucleic acid levels are associated with adiposity and insulinemia in Pima Indians and Caucasians.39
147428372004Regulation of 11beta-HSD genes in human adipose tissue: influence of central obesity and weight loss.38
23612224201311β-Hydroxysteroid dehydrogenase 1: translational and therapeutic aspects.35

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