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  3. HSD11B1

HSD11B1 (Hydroxysteroid 11-beta dehydrogenase 1)

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Summary of HSD11B1

The gene codes for a protein, hydroxysteroid 11-beta dehydrogenase 1. Mutations cause cortisone reductase deficiency [R].

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The Function of HSD11B1

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.

Protein names

Recommended name:

Corticosteroid 11-beta-dehydrogenase isozyme 1

Short name:

11-DH

Alternative name(s):

11-beta-hydroxysteroid dehydrogenase 1
11-beta-HSD1
Short chain dehydrogenase/reductase family 26C member 1

HSD11B1 SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS11119328 (HSD11B1) ??
  2. RS12086634 (HSD11B1) ??
  3. RS2235543 (HSD11B1) ??
  4. RS3753519 (HSD11B1) ??
  5. RS4844880 (HSD11B1) ??
  6. RS846910 (HSD11B1) ??

Top Gene-Substance Interactions

HSD11B1 Interacts with These Diseases

Disease Score

Substances That Increase HSD11B1

Substances Interaction Organism Category

Substances That Decrease HSD11B1

Substances Interaction Organism Category

Advanced Summary

     From NCBI Gene: Cortisone reductase deficiency 2From UniProt: Cortisone reductase deficiency (CRD): In CRD, activation of cortisone to cortisol does not occur, resulting in adrenocorticotropin-mediated androgen excess and a phenotype resembling polycystic ovary syndrome (PCOS). [MIM:604931]

     From NCBI 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] From UniProt: 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.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • PPAR-gamma1
  • PPAR-gamma2
  • GR
  • GR-alpha
  • GR-beta
  • PPAR-alpha
  • C/EBPbeta
  • C/EBPalpha
  • TBP
  • TFIID

Tissue specificity:

Widely expressed. Highest expression in liver.

Gene Pathways:

  • Metabolic pathways
  • Metabolism
  • Steroid hormone biosynthesis
  • Steroid hormones
  • Aldosterone-regulated sodium reabsorption

Molecular Function:

  • 11-Beta-Hydroxysteroid Dehydrogenase (Nadp+) Activity
  • 11-Beta-Hydroxysteroid Dehydrogenase
  • 11-Beta-Hydroxysteroid Dehydrogenase [Nad(P)] Activity

Biological Processes:

  • Glucocorticoid Biosynthetic Process
  • Lung Development

Drug Bank:

  • Prednisone
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| 11-beta-HSD1| 11beta-HSD1| 11beta-HSD-1| 11beta-HSD1A| 11-beta hydroxysteroid dehydrogenase| 11-beta-hydroxysteroid dehydrogenase 1| 11 beta-hydroxysteroid dehydrogenase type 1| 11-beta-hydroxysteroid dehydrogenase type 1| 11-beta-hydroxysteroid dehydrogenase, type 1| 11beta-hydroxysteroid dehydrogenase type 1| 11-DH| 7-alpha-HCD| 7-alpha-hydroxycholesterol dehydrogenase| CB1_000505012| corticosteroid 11-beta-dehydrogenase isozyme 1| Corticosteroid 11-beta-dehydrogenase, isozyme 1 (11-DH) (11-beta-hydroxysteroid dehydrogenase 1) (11-beta-HSD1) (11beta-HSD1A)| cortocosteroid 11-beta dehydrogenase| CORTRD2| D623_10012267| EGK_01698| H920_18983| HDL| HSD11| hsd11b| HSD11L| hydroxysteroid (11-beta) dehydrogenase 1| hydroxysteroid dehydrogenase, 11 beta type 1| LRRGT00065| M91_06960| MDA_GLEAN10009953| N301_00760| N309_01843| N324_10948| N325_11341| N326_08100| N330_11439| N331_06308| N335_08799| N336_09214| N339_00625| N341_08310| PAL_GLEAN10017598| PANDA_011035| SDR26C1| short chain dehydrogenase/reductase family 26C member 1| TREES_T100003453| Y1Q_008271| hsd11b1

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