HSD11B1 (hydroxysteroid 11-beta dehydrogenase 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3290
Gene name Gene Name - the full gene name approved by the HGNC.
Hydroxysteroid 11-beta dehydrogenase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HSD11B1
Synonyms (NCBI Gene) Gene synonyms aliases
11-DH, 11-beta-HSD1, CORTRD2, HDL, HSD11, HSD11B, HSD11L, SDR26C1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q32.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600713 5208 ENSG00000117594
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cortisone Reductase Deficiency cortisone reductase deficiency 2 rs387907168, rs756817759 N/A
Show/Hide Text Mining Associations (63)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alopecia Associate 29047245
Alzheimer Disease Associate 14583441
Arthritis Rheumatoid Associate 18420938
Atrophy Associate 21304964
Autism Spectrum Disorder Associate 32127416
Bipolar Disorder Stimulate 28752602
Body Weight Associate 26239572
Brain Diseases Metabolic Inborn Associate 15536220
Breast Neoplasms Associate 18611262, 35844785
Carcinoma Hepatocellular Associate 26414287