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
  • HSD11L 3 4 6
  • HSD11 3 4 6
  • Short Chain Dehydrogenase/Reductase Family 26C Member 1 3 4
  • 11-Beta-HSD1 3 4
  • EC 1.1.1.146 4 64
  • CORTRD2 3 6
  • SDR26C1 3 4
  • 11-DH 3 4
  • Short Chain Dehydrogenase/Reductase Family 26C, Member 1 3
  • Short Chain Dehydrogenase/Reductase Family 26C 2
  • Corticosteroid 11-Beta-Dehydrogenase Isozyme 1 3
  • 11-Beta-Hydroxysteroid Dehydrogenase 1 4
  • Member 1 2
  • EC 1.1.1 64
  • HSD11B 3
  • HDL 3

External Ids for HSD11B1 Gene

Previous Symbols for HSD11B1 Gene

  • HSD11B
  • HSD11

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 and metabolic syndrome x. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity and 11-beta-hydroxysteroid dehydrogenase (NADP+) activity. An important paralog of this gene is HSD11B1L.

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

  • The isozymes 11beta-HSD1 and 11beta-HSD2, both 11beta-Hydroxysteroid Dehydrogenases (11beta-HSD), catalyze the interconversion of cortisol (corticosterone in rodents) and cortisone (11-dehyrodocorticosterone). 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

Genomic Location for HSD11B1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HSD11B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD11B1 Gene

Regulatory Elements 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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for HSD11B1 Gene

Gene Families for HSD11B1 Gene

HGNC:
  • SDRC3 :Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3

UniProtKB/Swiss-Prot:

DHI1_HUMAN
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.:
    • P28845
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 --
GO:0016491 oxidoreductase activity --
GO:0070524 11-beta-hydroxysteroid dehydrogenase (NADP+) activity IEA --
genes like me logo Genes that share ontologies with HSD11B1: view
genes like me logo Genes that share phenotypes with HSD11B1: view

Animal Models for HSD11B1 Gene

MGI Knock Outs for HSD11B1:

miRNA for HSD11B1 Gene

miRTarBase miRNAs that target HSD11B1

No data available for Transcription Factor Targeting 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
nucleus 2
peroxisome 2
cytosol 1
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HSD11B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HSD11B1: view

Pathways 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:0006704 glucocorticoid biosynthetic process TAS --
GO:0008152 metabolic process --
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

Compounds for HSD11B1 Gene

(1) Tocris Compounds for HSD11B1 Gene

Compound Action Cas Number
PF 915275 Potent and selective 11beta-hydroxysteroid dehydrogenase inhibitor [857290-04-1]

(14) HMDB Compounds for HSD11B1 Gene

Compound Synonyms Cas Number PubMed IDs
11b-Hydroxyandrost-4-ene-3,17-dione
  • Androst-4-ene-3,17-dione-11beta-ol
382-44-5
11-Dehydrocorticosterone
  • 11-dehydro-Corticosterone
72-23-1
3a,21-Dihydroxy-5b-pregnane-11,20-dione
  • 5beta-Pregnane-3alpha,21-diol-11,20-dione
566-03-0
7a-Hydroxydehydroepiandrosterone
  • 7a-Hydroxydehydroisoandrosterone
53-00-9
7-Ketocholesterol
  • 3b-Hydroxycholest-5-en-7-one
566-28-9

(58) Novoseek inferred chemical compound relationships for HSD11B1 Gene

Compound -log(P) Hits PubMed IDs
11beta-hydroxysteroid 98.9 135
cortisone 97.5 133
11-dehydrocorticosterone 91.3 15
tetrahydrocortisone 87.7 4
carbenoxolone 85.5 17
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 (23.6).

Integrated Proteomics: protein expression 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 expressions with HSD11B1: view

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
chimpanzee
(Pan troglodytes)
Mammalia HSD11B1 36
  • 99.89 (n)
  • 99.66 (a)
HSD11B1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HSD11B1 36
  • 84.54 (n)
  • 78.69 (a)
HSD11B1 37
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSD11B1 36
  • 86.71 (n)
  • 82.82 (a)
HSD11B1 37
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hsd11b1 36
  • 79.73 (n)
  • 78.69 (a)
Hsd11b1 16
Hsd11b1 37
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HSD11B1 37
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hsd11b1 36
  • 79.91 (n)
  • 77 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 57 (a)
OneToMany
-- 37
  • 55 (a)
OneToMany
LOC771930 36
  • 63.55 (n)
  • 58.48 (a)
lizard
(Anolis carolinensis)
Reptilia HSD11B1 37
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC64545 36
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd11b1 36
  • 59.76 (n)
  • 53.57 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 39
-- 39
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs6752 -- 209,734,755(+) CATAG(A/G)TATAA utr-variant-3-prime
rs631923 -- 209,725,060(+) GCTAC(A/G/T)TAAAT intron-variant
rs701950 -- 209,685,334(+) TATTA(A/G)ATATC upstream-variant-2KB
rs760951 -- 209,688,180(+) tacct(A/G)agttg intron-variant
rs760952 -- 209,690,057(+) atgcc(C/T)ataat intron-variant

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

Relevant External Links for HSD11B1 Gene

HapMap Linkage Disequilibrium report
HSD11B1
Human Gene Mutation Database (HGMD)
HSD11B1

Disorders for HSD11B1 Gene

(1) OMIM Diseases for HSD11B1 Gene (600713)

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). Note=The disease is caused by mutations affecting the gene represented in this entry.

(40) Novoseek inferred disease relationships for HSD11B1 Gene

Disease -log(P) Hits PubMed IDs
cortisone reductase deficiency 94.7 6
obesity 73.7 114
insulin resistance 69.4 39
insulin sensitivity 68.8 21
cushing syndrome 68.2 4

Relevant External Links for HSD11B1

Genetic Association Database (GAD)
HSD11B1
Human Genome Epidemiology (HuGE) Navigator
HSD11B1
genes like me logo Genes that share disorders with HSD11B1: view

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 23 49
  2. The N-terminal anchor sequences of 11beta-hydroxysteroid dehydrogenases determine their orientation in the endoplasmic reticulum membrane. (PMID: 10497248) Odermatt A. … Frey F.J. (J. Biol. Chem. 1999) 3 4 23
  3. Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. (PMID: 12858176) Draper N. … Stewart P.M. (Nat. Genet. 2003) 3 4 23
  4. Associations between a polymorphism in the 11 beta hydroxysteroid dehydrogenase type I gene and body composition. (PMID: 12861241) Gelernter-Yaniv L. … Yanovski J.A. (Int. J. Obes. Relat. Metab. Disord. 2003) 3 23 49
  5. Glucocorticoid-related genetic susceptibility for Alzheimer's disease. (PMID: 14583441) de Quervain D.J. … Papassotiropoulos A. (Hum. Mol. Genet. 2004) 3 23 49

Products for HSD11B1 Gene

Sources for HSD11B1 Gene

Back to Top

Content