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MGP001506

Record overview

MGPD IDMGP001506
Gene ID3290
SpeciesHomo sapiens (Human)
Gene Namehydroxysteroid (11-beta) dehydrogenase 1
Gene Symbol HSD11B1
SynonymsHDL; 11-DH; HSD11; HSD11B; HSD11L; CORTRD2; SDR26C1; 11-beta-HSD1;
Alternate namescorticosteroid 11-beta-dehydrogenase isozyme 1; short chain dehydrogenase/reductase family 26C, member 1;
Chromosome1
Map Location1q32-q41
EC Number1.1.1.146
SummaryThe 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]
OrthologsView orthologs and multiple alignments for HSD11B1

Proteins

corticosteroid 11-beta-dehydrogenase isozyme 1
Refseq ID:NP_861420
Protein GI:32455239
UniProt ID:P28845
mRNA ID:NM_181755
Length:292
RefSeq Status:
MAFMKKYLLPILGLFMAYYYYSANEEFRPEMLQGKKVIVTGASKGIGREMAYHLAKMGAHVVVTARSKETLQKVVSHCLELGAASAHYIAGTMEDMTFAE
QFVAQAGKLMGGLDMLILNHITNTSLNLFHDDIHHVRKSMEVNFLSYVVLTVAALPMLKQSNGSIVVVSSLAGKVAYPMVAAYSASKFALDGFFSSIRKE
YSVSRVNVSITLCVLGLIDTETAMKAVSGIVHMQAAPKEECALEIIKGGALRQEEVYYDSSLWTTLLIRNPCRKILEFLYSTSYNMDRFINK
 
corticosteroid 11-beta-dehydrogenase isozyme 1
Refseq ID:NP_005516
Protein GI:5031765
UniProt ID:P28845
mRNA ID:NM_005525
Length:292
RefSeq Status:
Protein sequence is identical to GI:32455239 (mRNA isoform)
 
corticosteroid 11-beta-dehydrogenase isozyme 1
Refseq ID:NP_001193670
Protein GI:332078483
UniProt ID:P28845
mRNA ID:NM_001206741
Length:292
RefSeq Status:
Protein sequence is identical to GI:32455239 (mRNA isoform)
 
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