HSD11B1 (hydroxysteroid 11-beta dehydrogenase 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3290
Gene name Hydroxysteroid 11-beta dehydrogenase 1
Gene symbol HSD11B1
Synonyms (NCBI Gene)
11-DH11-beta-HSD1CORTRD2HDLHSD11HSD11BHSD11LSDR26C1
Chromosome 1
Chromosome location 1q32.2
Summary The 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 c
miRNA miRNA information provided by mirtarbase database.
11
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (11)
miRTarBase ID miRNA Experiments Reference
MIRT018628 hsa-miR-335-5p Microarray 18185580
MIRT030055 hsa-miR-26b-5p Microarray 19088304
MIRT2012660 hsa-miR-326 CLIP-seq
MIRT2012661 hsa-miR-330-5p CLIP-seq
MIRT2245009 hsa-miR-132 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0005496 Function Steroid binding IBA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IDA 10497248
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600713 5208 ENSG00000117594
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P28845
Protein name 11-beta-hydroxysteroid dehydrogenase 1 (11-DH) (11-beta-HSD1) (EC 1.1.1.146) (7-oxosteroid reductase) (EC 1.1.1.201) (Corticosteroid 11-beta-dehydrogenase isozyme 1) (Short chain dehydrogenase/reductase family 26C member 1)
Protein function Controls the reversible conversion of biologically active glucocorticoids such as cortisone to cortisol, and 11-dehydrocorticosterone to corticosterone in the presence of NADP(H) (PubMed:10497248, PubMed:12460758, PubMed:14973125, PubMed:1515200
PDB 1XU7 , 1XU9 , 2BEL , 2ILT , 2IRW , 2RBE , 3BYZ , 3BZU , 3CH6 , 3CZR , 3D3E , 3D4N , 3D5Q , 3EY4 , 3FCO , 3FRJ , 3H6K , 3HFG , 3OQ1 , 3PDJ , 3QQP , 3TFQ , 4BB5 , 4BB6 , 4C7J , 4C7K , 4HFR , 4HX5 , 4IJU , 4IJV , 4IJW , 4K1L , 4P38 , 4YYZ , 5PGU , 5PGV , 5PGW , 5PGX , 5PGY , 5QII
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00106 adh_short 35 → 230 short chain dehydrogenase Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, highest expression in liver, lower in testis, ovary, lung, foreskin fibroblasts, and much lower in kidney (PubMed:1885595). Expressed in liver (at protein level) (PubMed:21453287). Expressed in the basal cells of the
Sequence
Sequence length 292
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Steroid hormone biosynthesis
Metabolism of xenobiotics by cytochrome P450
Metabolic pathways
Chemical carcinogenesis - DNA adducts 		  Glucocorticoid biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cortisone reductase deficiency 2 Pathogenic rs387907168, rs756817759 RCV000024294
RCV000024295
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (19)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHRITIS, RHEUMATOID — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORTISONE REDUCTASE DEFICIENCY — CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DERMATITIS, ALLERGIC CONTACT — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (167)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly BEFREE 31801917
★★★★★
★☆☆☆☆
Found in Text Mining only
ACTH-Secreting Pituitary Adenoma Pituitary adenoma BEFREE 21111044
★★★★★
★☆☆☆☆
Found in Text Mining only
Addison Disease Addison`s Disease BEFREE 26800219
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 22411584, 24976539
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma LHGDN 12109593
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 12574226
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Neoplasms Adrenal neoplasia BEFREE 12574226, 21111044
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 18031327
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Craniopharyngioma Craniopharyngioma BEFREE 29975580
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 28332910
★★★★★
★☆☆☆☆
Found in Text Mining only