InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HSD11B1

Summary

InnateDB Protein

IDBP-106435.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HSD11B1

Protein Name

hydroxysteroid (11-beta) dehydrogenase 1

Synonyms

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

Species

Homo sapiens

Ensembl Protein

ENSP00000355994

InnateDB Gene

IDBG-106429 (HSD11B1)

Protein Structure

UniProt Annotation

Function

Catalyzes reversibly the conversion of cortisol to the inactive metabolite cortisone. Catalyzes reversibly the conversion of 7-ketocholesterol to 7-beta-hydroxycholesterol. In intact cells, the reaction runs only in one direction, from 7- ketocholesterol to 7-beta-hydroxycholesterol (By similarity). {ECO:0000250}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:10497248}; Single-pass type II membrane protein {ECO:0000269PubMed:10497248}.

Disease Associations

Cortisone reductase deficiency (CRD) [MIM:604931]: In CRD, activation of cortisone to cortisol does not occur, resulting in adrenocorticotropin-mediated androgen excess and a phenotype resembling polycystic ovary syndrome (PCOS). Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Highest expression in liver.

Comments

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:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process