Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HSD11B1 Gene

Aliases for HSD11B1 Gene

  • Hydroxysteroid (11-Beta) Dehydrogenase 1 2 3 5
  • Short Chain Dehydrogenase/Reductase Family 26C Member 1 3 4
  • 11-Beta-HSD1 3 4
  • EC 1.1.1.146 4 63
  • SDR26C1 3 4
  • HSD11L 3 4
  • HSD11 3 4
  • 11-DH 3 4
  • Short Chain Dehydrogenase/Reductase Family 26C, Member 1 3
  • Short Chain Dehydrogenase/Reductase Family 26C 2
  • 11-Beta-Hydroxysteroid Dehydrogenase 1 4
  • Member 1 2
  • EC 1.1.1 63
  • CORTRD2 3
  • HSD11B 3
  • HDL 3

External Ids for HSD11B1 Gene

Previous HGNC Symbols for HSD11B1 Gene

  • HSD11B
  • HSD11

Previous GeneCards Identifiers for HSD11B1 Gene

  • GC01P208517
  • GC01P205584
  • GC01P206517
  • GC01P206938
  • GC01P206247
  • GC01P207926
  • GC01P209859
  • GC01P180534

Summaries for HSD11B1 Gene

Entrez Gene Summary for HSD11B1 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 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]

GeneCards Summary for HSD11B1 Gene

HSD11B1 (Hydroxysteroid (11-Beta) Dehydrogenase 1) is a Protein Coding gene. Diseases associated with HSD11B1 include Cortisone Reductase Deficiency 2 and Cortisone Reductase Deficiency. Among its related pathways are Metabolism of steroid hormones and Metabolism. GO annotations related to this gene include oxidoreductase activity and 11-beta-hydroxysteroid dehydrogenase (NADP+) activity. An important paralog of this gene is DHRS7C.

UniProtKB/Swiss-Prot for HSD11B1 Gene

  • Catalyzes reversibly the conversion of cortisol to the inactive metabolite cortisone. 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).

Tocris Summary for HSD11B1 Gene

  • 11beta-Hydroxysteroid Dehydrogenases (11beta-HSD) isozymes 11beta-HSD1 and 11beta-HSD2 catalyze the interconversion of cortisol and cortisone. 11beta-HSD1 converts cortisone to cortisol, the active hormone; and 11beta-HSD2 converts cortisol to cortisone, the inactive form.

Gene Wiki entry for HSD11B1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSD11B1 Gene

Genomics for HSD11B1 Gene

Regulatory Elements for HSD11B1 Gene

Enhancers for HSD11B1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HSD11B1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HSD11B1 Gene

Chromosome:
1
Start:
209,686,178 bp from pter
End:
209,734,950 bp from pter
Size:
48,773 bases
Orientation:
Plus strand

Genomic View for HSD11B1 Gene

Genes around HSD11B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD11B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD11B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD11B1 Gene

Proteins for HSD11B1 Gene

  • Protein details for HSD11B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28845-DHI1_HUMAN
    Recommended name:
    Corticosteroid 11-beta-dehydrogenase isozyme 1
    Protein Accession:
    P28845
    Secondary Accessions:
    • B2R9Z1
    • D3DT89

    Protein attributes for HSD11B1 Gene

    Size:
    292 amino acids
    Molecular mass:
    32401 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for HSD11B1 Gene

neXtProt entry for HSD11B1 Gene

Proteomics data for HSD11B1 Gene at MOPED

Selected DME Specific Peptides for HSD11B1 Gene

Post-translational modifications for HSD11B1 Gene

Other Protein References for HSD11B1 Gene

Antibody Products

  • R&D Systems Antibodies for HSD11B1 (11 beta-HSD1)

Domains & Families for HSD11B1 Gene

Gene Families for HSD11B1 Gene

Protein Domains for HSD11B1 Gene

Suggested Antigen Peptide Sequences for HSD11B1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P28845

UniProtKB/Swiss-Prot:

DHI1_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with HSD11B1: view

Function for HSD11B1 Gene

Molecular function for HSD11B1 Gene

GENATLAS Biochemistry:
hydroxysteroid dehydrogenase 11-beta 1,NADP dependent,expressed in liver,lung,testis,catalyzing the interconversion of cortisol and cortisone,glucocorticoid metabolism liver
UniProtKB/Swiss-Prot CatalyticActivity:
An 11-beta-hydroxysteroid + NADP(+) = an 11-oxosteroid + NADPH.
UniProtKB/Swiss-Prot Function:
Catalyzes reversibly the conversion of cortisol to the inactive metabolite cortisone. 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).

Enzyme Numbers (IUBMB) for HSD11B1 Gene

Gene Ontology (GO) - Molecular Function for HSD11B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003845 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity TAS --
genes like me logo Genes that share ontologies with HSD11B1: view
genes like me logo Genes that share phenotypes with HSD11B1: view

Human Phenotype Ontology for HSD11B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HSD11B1 Gene

MGI Knock Outs for HSD11B1:

Animal Model Products

  • Taconic Biosciences Mouse Models for HSD11B1

miRNA for HSD11B1 Gene

miRTarBase miRNAs that target HSD11B1

No data available for Transcription Factor Targets and HOMER Transcription for HSD11B1 Gene

Localization for HSD11B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD11B1 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HSD11B1 Gene COMPARTMENTS Subcellular localization image for HSD11B1 gene
Compartment Confidence
endoplasmic reticulum 5
peroxisome 3
cytosol 2
extracellular 2
nucleus 2
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HSD11B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HSD11B1: view

Pathways & Interactions for HSD11B1 Gene

genes like me logo Genes that share pathways with HSD11B1: view

Gene Ontology (GO) - Biological Process for HSD11B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008202 steroid metabolic process TAS --
GO:0030324 lung development IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with HSD11B1: view

No data available for SIGNOR curated interactions for HSD11B1 Gene

Drugs & Compounds for HSD11B1 Gene

(53) Drugs for HSD11B1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydrocortisone Approved Pharma Agonist 594
Prednisone Approved Pharma Target, ligand 1286
Tacrolimus Approved, Investigational Pharma 1045
Carbenoxolone Experimental Pharma Inhibitor, Target, inhibitor 0
(11-BETA)-11,21-DIHYDROXY-PREGN-4-ENE-3,20-DIONE Experimental Pharma Target 0

(38) Additional Compounds for HSD11B1 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
11-Dehydrocorticosterone
  • 11-Dehydro-Corticosterone
  • 11-Dehydrocorticosteron
  • 11-Dehydrocorticosterone
  • 11-Oxo-11-deoxycorticosterone
  • 11-Oxocorticosterone
72-23-1
7-Ketocholesterol
  • 3b-Hydroxycholest-5-en-7-one
  • 7-Ketocholesterol
  • 7-Oxocholesterol
  • Cholest-5-en-3b-ol-7-one
  • Delta5-Cholesten-3b-ol-7-one
566-28-9
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
11b-Hydroxyandrost-4-ene-3,17-dione
  • 11beta-Hydroxyandrost-4-ene-3,17-dione
  • 4-Androsten-11beta-ol-3,17-dione
  • Androst-4-ene-3,17-dione-11beta-ol
382-44-5
3a,21-Dihydroxy-5b-pregnane-11,20-dione
  • 3alpha,21-Dihydroxy-5beta-pregnane-11,20-dione
  • 5beta-Pregnane-3alpha,21-diol-11,20-dione
566-03-0

(2) Tocris Compounds for HSD11B1 Gene

Compound Action Cas Number
Carbenoxolone disodium Gap junction blocker. Also inhibitor of 11 beta-hydroxysteroid dehydrogenase 7421-40-1
PF 915275 Potent and selective 11beta-hydroxysteroid dehydrogenase inhibitor 857290-04-1

(1) ApexBio Compounds for HSD11B1 Gene

Compound Action Cas Number
Carbenoxolone disodium 7421-40-1
genes like me logo Genes that share compounds with HSD11B1: view

Transcripts for HSD11B1 Gene

Unigene Clusters for HSD11B1 Gene

Hydroxysteroid (11-beta) dehydrogenase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HSD11B1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b
SP1:
SP2: - -
SP3: - -
SP4: - -

Relevant External Links for HSD11B1 Gene

GeneLoc Exon Structure for
HSD11B1
ECgene alternative splicing isoforms for
HSD11B1

Expression for HSD11B1 Gene

mRNA expression in normal human tissues for HSD11B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HSD11B1 Gene

This gene is overexpressed in Liver (x23.6).

Protein differential expression in normal tissues from HIPED for HSD11B1 Gene

This gene is overexpressed in Liver (58.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HSD11B1 Gene



SOURCE GeneReport for Unigene cluster for HSD11B1 Gene Hs.195040

mRNA Expression by UniProt/SwissProt for HSD11B1 Gene

P28845-DHI1_HUMAN
Tissue specificity: Widely expressed. Highest expression in liver.
genes like me logo Genes that share expression patterns with HSD11B1: view

Primer Products

No data available for Protein tissue co-expression partners for HSD11B1 Gene

Orthologs for HSD11B1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HSD11B1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HSD11B1 35
  • 84.54 (n)
  • 78.69 (a)
HSD11B1 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSD11B1 35
  • 86.71 (n)
  • 82.82 (a)
HSD11B1 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hsd11b1 35
  • 79.73 (n)
  • 78.69 (a)
Hsd11b1 16
Hsd11b1 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HSD11B1 35
  • 99.89 (n)
  • 99.66 (a)
HSD11B1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hsd11b1 35
  • 79.91 (n)
  • 77 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia HSD11B1 36
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC771930 35
  • 63.55 (n)
  • 58.48 (a)
-- 36
  • 57 (a)
OneToMany
-- 36
  • 55 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia HSD11B1 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd11b1 35
  • 59.76 (n)
  • 53.57 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC64545 35
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 38
-- 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToOne
Species with no ortholog for HSD11B1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HSD11B1 Gene

ENSEMBL:
Gene Tree for HSD11B1 (if available)
TreeFam:
Gene Tree for HSD11B1 (if available)

Paralogs for HSD11B1 Gene

Paralogs for HSD11B1 Gene

(1) SIMAP similar genes for HSD11B1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with HSD11B1: view

Variants for HSD11B1 Gene

Sequence variations from dbSNP and Humsavar for HSD11B1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_035845 A breast cancer sample

Structural Variations from Database of Genomic Variants (DGV) for HSD11B1 Gene

Variant ID Type Subtype PubMed ID
nsv873139 CNV Gain 21882294
nsv525445 CNV Loss 19592680

Variation tolerance for HSD11B1 Gene

Residual Variation Intolerance Score: 20.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HSD11B1 Gene

Human Gene Mutation Database (HGMD)
HSD11B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD11B1 Gene

Disorders for HSD11B1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for HSD11B1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cortisone reductase deficiency 2
cortisone reductase deficiency
  • 11-alpha beta-hydroxysteroid dehydrogenase type i deficiency of
hyperandrogenism due to cortisone reductase deficiency
  • 11-beta-hydroxysteroid dehydrogenase deficiency type 1
metabolic syndrome x
  • abdominal obesity-metabolic syndrome
cushing's syndrome
  • cushing syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DHI1_HUMAN
  • Cortisone reductase deficiency (CRD) [MIM:604931]: In CRD, activation of cortisone to cortisol does not occur, resulting in adrenocorticotropin-mediated androgen excess and a phenotype resembling polycystic ovary syndrome (PCOS). {ECO:0000269 PubMed:12858176}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HSD11B1

Genetic Association Database (GAD)
HSD11B1
Human Genome Epidemiology (HuGE) Navigator
HSD11B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSD11B1
genes like me logo Genes that share disorders with HSD11B1: view

No data available for Genatlas for HSD11B1 Gene

Publications for HSD11B1 Gene

  1. Association studies between microsatellite markers within the gene encoding human 11beta-hydroxysteroid dehydrogenase type 1 and body mass index, waist to hip ratio, and glucocorticoid metabolism. (PMID: 12414862) Draper N. … Stewart P.M. (J. Clin. Endocrinol. Metab. 2002) 3 4 48 67
  2. Dehydroepiandrosterone 7alpha-hydroxylation in human tissues: possible interference with type 1 11beta-hydroxysteroid dehydrogenase-mediated processes. (PMID: 17467270) Hennebert O. … Morfin R. (J. Steroid Biochem. Mol. Biol. 2007) 3 23 26
  3. Overexpression of 11beta-hydroxysteroid dehydrogenase type 1 in hepatic and visceral adipose tissue is associated with metabolic disorders in morbidly obese patients. (PMID: 19690925) Baudrand R. … Fardella C.E. (Obes Surg 2010) 3 23
  4. The role of 11beta-hydroxysteroid dehydrogenase 1 in adipogenesis in thyroid-associated ophthalmopathy. (PMID: 19880789) Tomlinson J.W. … Rauz S. (J. Clin. Endocrinol. Metab. 2010) 3 23
  5. The glucocorticoid-activating enzyme 11beta-hydroxysteroid dehydrogenase type 1 has broad substrate specificity: Physiological and toxicological considerations. (PMID: 20100573) Odermatt A. … Nashev L.G. (J. Steroid Biochem. Mol. Biol. 2010) 3 23

Products for HSD11B1 Gene

Sources for HSD11B1 Gene

Content