MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP001506

UniProt Annotations

Entry Information
Gene Namehydroxysteroid (11-beta) dehydrogenase 1
Protein EntryDHI1_HUMAN
UniProt IDP28845
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityAn 11-beta-hydroxysteroid + NADP(+) = an 11- oxosteroid + NADPH. {ECO:0000269|PubMed:10497248, ECO:0000269|PubMed:15152005, ECO:0000269|PubMed:17070044, ECO:0000269|PubMed:17919905}.
DiseaseCortisone 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.
FunctionCatalyzes 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}.
PtmGlycosylated. {ECO:0000269|PubMed:10497248, ECO:0000269|PubMed:19159218}.
SimilarityBelongs to the short-chain dehydrogenases/reductases (SDR) family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000269|PubMed:10497248}; Single-pass type II membrane protein {ECO:0000269|PubMed:10497248}.
SubunitHomodimer. {ECO:0000269|PubMed:15513927, ECO:0000269|PubMed:17919905, ECO:0000269|PubMed:18069989, ECO:0000269|PubMed:18485702, ECO:0000269|PubMed:18553955, ECO:0000269|PubMed:19217779}.
Tissue SpecificityWidely expressed. Highest expression in liver.
  logo