Homo sapiens Gene: HSD11B1
Summary
InnateDB Gene IDBG-106429.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HSD11B1
Gene Name hydroxysteroid (11-beta) dehydrogenase 1
Synonyms 11-beta-HSD1; 11-DH; CORTRD2; HDL; HSD11; HSD11B; HSD11L; SDR26C1
Species Homo sapiens
Ensembl Gene ENSG00000117594
Encoded Proteins
hydroxysteroid (11-beta) dehydrogenase 1
hydroxysteroid (11-beta) dehydrogenase 1
hydroxysteroid (11-beta) dehydrogenase 1
hydroxysteroid (11-beta) dehydrogenase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:209686178-209734950
Strand Forward strand
Band q32.2
Transcripts
ENST00000367028 ENSP00000355995
ENST00000261465 ENSP00000261465
ENST00000367027 ENSP00000355994
ENST00000615289 ENSP00000478430
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 3 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003845 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity
GO:0016491 oxidoreductase activity
GO:0070524 11-beta-hydroxysteroid dehydrogenase (NADP+) activity
Biological Process
GO:0006704 glucocorticoid biosynthetic process
GO:0008152 metabolic process
GO:0008202 steroid metabolic process
GO:0030324 lung development
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Glucocorticoid biosynthesis pathway
Metabolism of lipids and lipoproteins pathway
Metabolism of steroid hormones and vitamin D pathway
Metabolism pathway
KEGG
Steroid hormone biosynthesis pathway
Metabolism of xenobiotics by cytochrome P450 pathway
INOH
PID NCI
Cross-References
SwissProt P28845
TrEMBL
UniProt Splice Variant
Entrez Gene 3290
UniGene Hs.598339
RefSeq NM_001206741 NM_005525 NM_181755
HUGO HGNC:5208
OMIM 600713
CCDS CCDS1489
HPRD 07042
IMGT
EMBL AK313973 AL022398 AL031316 AY044083 AY044084 BC012593 CH471100 M76661 M76662 M76663 M76664 M76665
GenPept AAC31757 AAH12593 AAK83653 BAG36688 CAA18541 CAI20063 EAW93445 EAW93446
RNA Seq Atlas 3290