Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol HSD11B1 contributors: mct - updated : 17-03-2009
HGNC name hydroxysteroid (11-beta) dehydrogenase 1
HGNC id 5208
Corresponding disease
CRD1 cortisone reductase deficiency1
Location 1q32.2      Physical location : 209.859.549 - 209.908.294
Synonym name
  • short chain dehydrogenase/reductase family 26C, member 1
  • corticosteroid 11-beta-dehydrogenase isozyme 1
  • Synonym symbol(s) HSD11B, HSD11L, HSD11, HDL, SDR26C1, 11-beta-HSD1, MGC13539
    EC.number 1.1.1.146
    DNA
    TYPE functioning gene
    STRUCTURE 48.75 kb     7 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text variants 1 and 2 encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1405 32.3 292 in decidua, placenta, liver, lung, spleen, kidney medulla, cerebellum and pituitary, but was absent in kidney cortex, sigmoid and rectal colon, salivary gland and thyroid 1995 7545619
    NADP(H)-dependent (type 1) dehydrogenase/oxo-reductase enzyme
    7 - 1415 32.3 292 only in placenta and in the classical mineralocorticoid target tissues, kidney cortex, kidney medulla, sigmoid and rectal colon, salivary gland, and colonic epithelial cell lines 1995 7545619
    predominantly in mineralocorticoid target tissues where it serves to protect the mineralocorticoid receptor in an autocrine fashion
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell Homo sapiens
    Urinaryepithelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Hsd11b1
    homolog to C.elegans T25G12.7
    Homologene
    FAMILY
  • short-chain dehydrogenases/reductases (SDR) family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • hydroxysteroid dehydrogenase 11-beta 1, NADP dependent
  • regulates glucocorticoid action at the pre-receptor stage by converting cortisone to cortisol
  • playing a role in cell-to-cell signaling
  • regenerates active cortisol from inactive cortisone
  • bi-directional, vascular 11beta-HSD1 favors reactivation (reductase) over the deactivation (dehydrogenase) reaction, impairing Gc (glucocorticoids) deactivation (correlated with lower vascular resistance)
  • implicated in the pathogenesis of central obesity and metabolic syndrome
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate , lipid/lipoprotein
    signaling
    glucocorticoid metabolism in liver, steroid metabolism
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • NADP
  • protein with COX2 (co-localizes with COX2 in proximal tubule cells)
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CRD1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in adipose tissues from obese
    constitutional     --over  
    linked to increasing age and alcohol intake
    Susceptibility to obesity
    Variant & Polymorphism other 11beta-HSD1 activity increases with age, and is reduced in obese boys
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS