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HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 [ Homo sapiens (human) ]

Gene ID: 3290, updated on 27-Nov-2024

Summary

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Official Symbol
HSD11B1provided by HGNC
Official Full Name
hydroxysteroid 11-beta dehydrogenase 1provided by HGNC
Primary source
HGNC:HGNC:5208
See related
Ensembl:ENSG00000117594 MIM:600713; AllianceGenome:HGNC:5208
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HDL; 11-DH; HSD11; HSD11B; HSD11L; CORTRD2; SDR26C1; 11-beta-HSD1
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 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]
Expression
Biased expression in liver (RPKM 186.4), placenta (RPKM 27.2) and 1 other tissue See more
Orthologs
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Genomic context

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See HSD11B1 in Genome Data Viewer
Location:
1q32.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (209686179..209734929)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (208932934..208981687)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (209859524..209908274)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:209802693-209803194 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:209803195-209803696 Neighboring gene laminin subunit beta 3 Neighboring gene microRNA 4260 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:209825272-209826471 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:209830041-209831240 Neighboring gene HSD11B1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:209848869-209849717 Neighboring gene G0/G1 switch 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2470 Neighboring gene adenosine A2b receptor pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2473 Neighboring gene TRAF3 interacting protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2475 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:209944889-209945388 Neighboring gene MPRA-validated peak675 silencer Neighboring gene chromosome 1 open reading frame 74

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. 11beta-hydroxysteroid dehydrogenase activity in acromegalic patients with normal or impaired carbohydrate metabolism. Mondok A, et al. Steroids, 2009 Sep. PMID 19540999
  2. Repeated measurements of 11β-HSD-1 activity in subcutaneous adipose tissue from lean, abdominally obese, and type 2 diabetes subjects--no change following a mixed meal. Sjöstrand M, et al. Horm Metab Res, 2010 Oct. PMID 20514603
  3. The glucocorticoid-activating enzyme 11beta-hydroxysteroid dehydrogenase type 1 has broad substrate specificity: Physiological and toxicological considerations. Odermatt A, et al. J Steroid Biochem Mol Biol, 2010 Mar. PMID 20100573
  4. 11beta-Hydroxysteroid dehydrogenase type 1 is an important regulator at the interface of obesity and inflammation. Staab CA, et al. J Steroid Biochem Mol Biol, 2010 Mar. PMID 20045052
  5. Tissue-specific increases in 11beta-hydroxysteroid dehydrogenase type 1 in normal weight postmenopausal women. Andersson T, et al. PLoS One, 2009 Dec 29. PMID 20041117, Free PMC Article

See all (273) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Association of polymorphisms of HSD11B1 and ACE genes with trachoma disease.
    Title: Association of polymorphisms of HSD11B1 and ACE genes with trachoma disease.
  2. 11-beta-hydroxysteroid dehydrogenase type 1 (HSD11B1) gene expression in muscle is linked to reduced skeletal muscle index in sarcopenic patients.
    Title: 11-beta-hydroxysteroid dehydrogenase type 1 (HSD11B1) gene expression in muscle is linked to reduced skeletal muscle index in sarcopenic patients.
  3. G6PC1 and G6PC2 influence G6P flux but not HSD11B1 activity.
    Title: G6PC1 and G6PC2 influence G6P flux but not HSD11B1 activity.
  4. Hyperglycemia-activated 11beta-hydroxysteroid dehydrogenase type 1 increases endoplasmic reticulum stress and skin barrier dysfunction.
    Title: Hyperglycemia-activated 11β-hydroxysteroid dehydrogenase type 1 increases endoplasmic reticulum stress and skin barrier dysfunction.
  5. Inhibition of 11beta-hydroxysteroid dehydrogenase 1 relieves fibrosis through depolarizing of hepatic stellate cell in NASH.
    Title: Inhibition of 11β-hydroxysteroid dehydrogenase 1 relieves fibrosis through depolarizing of hepatic stellate cell in NASH.
  6. Variants in HSD11B1 gene modulate susceptibility to diabetes kidney disease and to insulin resistance in type 1 diabetes.
    Title: Variants in HSD11B1 gene modulate susceptibility to diabetes kidney disease and to insulin resistance in type 1 diabetes.
  7. Microenvironment-associated gene HSD11B1 may serve as a prognostic biomarker in clear cell renal cell carcinoma: a study based on TCGA, RTqPCR, Western blotting, and immunohistochemistry.
    Title: Microenvironment-associated gene HSD11B1 may serve as a prognostic biomarker in clear cell renal cell carcinoma: a study based on TCGA, RT‑qPCR, Western blotting, and immunohistochemistry.
  8. Association between Selected Polymorphisms rs12086634, rs846910, rs4844880, rs3753519 of 11beta-Hydroxysteroid Dehydrogenase Type 1 (HSD11B1) and the Presence of Insulin Resistance in the Polish Population of People Living in Upper Silesia.
    Title: Association between Selected Polymorphisms rs12086634, rs846910, rs4844880, rs3753519 of 11β-Hydroxysteroid Dehydrogenase Type 1 (HSD11B1) and the Presence of Insulin Resistance in the Polish Population of People Living in Upper Silesia.
  9. Lack of association of the 11 beta-hydroxysteroid dehydrogenase type 1 gene 25669dupA polymorphism with obesity and metabolic syndrome.
    Title: Lack of association of the 11 beta-hydroxysteroid dehydrogenase type 1 gene 25669dupA polymorphism with obesity and metabolic syndrome.
  10. The rise in expression and activity of 11beta-HSD1 in human mesenchymal progenitor cells induces adipogenesis through increased local cortisol synthesis.
    Title: The rise in expression and activity of 11β-HSD1 in human mesenchymal progenitor cells induces adipogenesis through increased local cortisol synthesis.
Submit: New GeneRIF Correction See all GeneRIFs (220)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Cortisone reductase deficiency 2
MedGen: C3553382 OMIM: 614662 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC13539

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 11-beta-hydroxysteroid dehydrogenase (NADP+) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 11-beta-hydroxysteroid dehydrogenase (NADP+) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables 7-beta-hydroxysteroid dehydrogenase (NADP+) activity IEA
Inferred from Electronic Annotation
more info
  
enables NADP binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables cortisol dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables steroid binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in lung development IEA
Inferred from Electronic Annotation
more info
  
involved_in steroid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane HDA PubMed 

General protein information

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Preferred Names
11-beta-hydroxysteroid dehydrogenase 1
Names
7-oxosteroid reductase
corticosteroid 11-beta-dehydrogenase isozyme 1
short chain dehydrogenase/reductase family 26C member 1
NP_001193670.1
NP_005516.1
NP_861420.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012081.1 RefSeqGene

    Range
    23642..53725
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001206741.2 → NP_001193670.1  11-beta-hydroxysteroid dehydrogenase 1

    See identical proteins and their annotated locations for NP_001193670.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AK313973, AL031316, BX345837, CB530075, CF597174
    Consensus CDS
    CCDS1489.1
    UniProtKB/Swiss-Prot
    B2R9Z1, D3DT89, P28845
    UniProtKB/TrEMBL
    A0A0A0MQV1, X5D2L1
    Related
    ENSP00000355995.1, ENST00000367028.6
    Conserved Domains (1) summary
    cd05332
    Location:32 → 279
    11beta-HSD1_like_SDR_c; 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1)-like, classical (c) SDRs

  2. NM_005525.4 → NP_005516.1  11-beta-hydroxysteroid dehydrogenase 1

    See identical proteins and their annotated locations for NP_005516.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AL022398, BC012593, BM994393
    Consensus CDS
    CCDS1489.1
    UniProtKB/Swiss-Prot
    B2R9Z1, D3DT89, P28845
    UniProtKB/TrEMBL
    A0A0A0MQV1, X5D2L1
    Related
    ENSP00000355994.3, ENST00000367027.5
    Conserved Domains (1) summary
    cd05332
    Location:32 → 279
    11beta-HSD1_like_SDR_c; 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1)-like, classical (c) SDRs

  3. NM_181755.3 → NP_861420.1  11-beta-hydroxysteroid dehydrogenase 1

    See identical proteins and their annotated locations for NP_861420.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AK313973, AL031316, CB530075, CF597174
    Consensus CDS
    CCDS1489.1
    UniProtKB/Swiss-Prot
    B2R9Z1, D3DT89, P28845
    UniProtKB/TrEMBL
    A0A0A0MQV1, X5D2L1
    Conserved Domains (1) summary
    cd05332
    Location:32 → 279
    11beta-HSD1_like_SDR_c; 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1)-like, classical (c) SDRs

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    209686179..209734929
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    208932934..208981687
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P28845.3 GenPept UniProtKB/Swiss-Prot:P28845

Gene LinkOut

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