Human Gene HSD11B1 (ENST00000367027.5) from GENCODE V50
Description: hydroxysteroid 11-beta dehydrogenase 1, transcript variant 1 (from RefSeq NM_005525.4)
Gencode Transcript: ENST00000367027.5
Gencode Gene: ENSG00000117594.12
Transcript (Including UTRs)
Position: hg38 chr1:209,704,846-209,734,929 Size: 30,084 Total Exon Count: 6 Strand: +
Coding Region
Position: hg38 chr1:209,704,943-209,734,521 Size: 29,579 Coding Exon Count: 6
Data last updated at UCSC: 2026-07-12 09:30:09
Sequence and Links to Tools and Databases
Primer design for this transcript
MalaCards Disease Associations
MalaCards Gene Search: HSD11B1
Diseases sorted by gene-association score: cortisone reductase deficiency 2 * (1000), hyperandrogenism due to cortisone reductase deficiency * (350), cortisone reductase deficiency (52), apparent mineralocorticoid excess (12), polycystic ovary syndrome (11), abdominal obesity-metabolic syndrome 1 (11), cushing's syndrome (9), adrenal adenoma (8), van der woude syndrome (7), ocular hypertension (7), intracranial hypertension (6), acth deficiency (6), obesity (5), pituitary-dependent cushing's disease (3), diabetes mellitus, noninsulin-dependent (2), osteoporosis (2), overnutrition (1)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Descriptions from all associated GenBank mRNAs
DD367262 - 11-beta-HSD1 antisense compounds.BC012593 - Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1, mRNA (cDNA clone MGC:13539 IMAGE:4286028), complete cds.DD367248 - 11-beta-HSD1 antisense compounds.AK313973 - Homo sapiens cDNA, FLJ94621, Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), mRNA.KJ897009 - Synthetic construct Homo sapiens clone ccsbBroadEn_06403 HSD11B1 gene, encodes complete protein.AB590223 - Synthetic construct DNA, clone: pFN21AE1493, Homo sapiens HSD11B1 gene for hydroxysteroid (11-beta) dehydrogenase 1, without stop codon, in Flexi system.KJ534869 - Homo sapiens clone HSD11B1_iso-A_adult-A09 hydroxysteroid 11-beta dehydrogenase 1 isoform A (HSD11B1) mRNA, partial cds, alternatively spliced.DQ892912 - Synthetic construct clone IMAGE:100005542; FLH190768.01X; RZPDo839D1076D hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1) gene, encodes complete protein.EU176721 - Synthetic construct Homo sapiens clone IMAGE:100011642; FLH264001.01L; RZPDo839A10245D hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1) gene, encodes complete protein.JD162973 - Sequence 143997 from Patent EP1572962.JD184576 - Sequence 165600 from Patent EP1572962.JD198668 - Sequence 179692 from Patent EP1572962.JD377820 - Sequence 358844 from Patent EP1572962.JD417396 - Sequence 398420 from Patent EP1572962.JD503539 - Sequence 484563 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00140 - Steroid hormone biosynthesishsa01100 - Metabolic pathwayshsa04960 - Aldosterone-regulated sodium reabsorption
BioCyc Knowledge Library PWY-8202 - 11-oxyandrogens biosynthesis
BioCarta from NCI Cancer Genome Anatomy Project h_vobesityPathway - Visceral Fat Deposits and the Metabolic Syndrome
Other Names for This Gene
Alternate Gene Symbols: ENST00000367027.1, ENST00000367027.2, ENST00000367027.3, ENST00000367027.4, HSD11B1 , NM_005525, uc001hhk.1, uc001hhk.2, uc001hhk.3, uc001hhk.4, uc001hhk.5, X5D2L1, X5D2L1_HUMANUCSC ID: ENST00000367027.5RefSeq Accession: NM_005525.4
CCDS: CCDS1489.1
Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.