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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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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