UniProt functional annotation for P28845

UniProt code: P28845.

Organism: Homo sapiens (Human).
Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
 
Function: Catalyzes reversibly the conversion of cortisol to the inactive metabolite cortisone (PubMed:10497248). 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|UniProtKB:Q6R0J2, ECO:0000269|PubMed:10497248}.
 
Catalytic activity: Reaction=an 11beta-hydroxysteroid + NADP(+) = an 11-oxosteroid + H(+) + NADPH; Xref=Rhea:RHEA:11388, ChEBI:CHEBI:15378, ChEBI:CHEBI:35346, ChEBI:CHEBI:47787, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.146; Evidence={ECO:0000269|PubMed:10497248, ECO:0000269|PubMed:15152005, ECO:0000269|PubMed:17070044, ECO:0000269|PubMed:17919905};
Catalytic activity: Reaction=corticosterone + NADP(+) = 11-dehydrocorticosterone + H(+) + NADPH; Xref=Rhea:RHEA:42200, ChEBI:CHEBI:15378, ChEBI:CHEBI:16827, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:78600; Evidence={ECO:0000269|PubMed:10497248}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42201; Evidence={ECO:0000269|PubMed:10497248}; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:42202; Evidence={ECO:0000269|PubMed:10497248};
Subunit: Homodimer. {ECO:0000269|PubMed:15513927, ECO:0000269|PubMed:17919905, ECO:0000269|PubMed:18069989, ECO:0000269|PubMed:18485702, ECO:0000269|PubMed:18553955, ECO:0000269|PubMed:19217779}.
Subcellular location: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10497248}; Single-pass type II membrane protein {ECO:0000269|PubMed:10497248}.
Tissue specificity: Widely expressed. Highest expression in liver.
Ptm: Glycosylated. {ECO:0000269|PubMed:10497248, ECO:0000269|PubMed:19159218}.
Disease: Cortisone reductase deficiency 2 (CORTRD2) [MIM:614662]: An autosomal dominant error of cortisone metabolism characterized by a failure to regenerate cortisol from cortisone, resulting in increased cortisol clearance, activation of the hypothalamic- pituitary axis and ACTH-mediated adrenal androgen excess. Clinical features include hyperandrogenism resulting in hirsutism, oligo- amenorrhea, and infertility in females and premature pseudopuberty in males. {ECO:0000269|PubMed:12858176}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.