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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
    Physical map
    CD34 1q32 CD34 antigen FLJ30634 1q32.2 hypothetical protein FLJ30634 PLXNA2 1 plexin A2 LOC391157 1 similar to GRB2-related adaptor protein LOC391158 1 similar to Transcription factor DP-1 (E2F dimerization partner 1) (DRTF1-polypeptide-1) (DRTF1) LOC91170 1q32.2 hypothetical gene supported by AK002208 CAMK1G 1q32-q41 calcium/calmodulin-dependent protein kinase IG LAMB3 1q32 laminin, beta 3 G0S2 1q32.2-q41 laminin, beta 3 HSD11B1 1q32-q41 hydroxysteroid (11-beta) dehydrogenase 1 ADORA2BP 1q32 adenosine A2b receptor pseudogene T3JAM 1q32.3-q41 TRAF3-interacting Jun N-terminal kinase (JNK)-activating modulator FLJ25078 1q32.2 hypothetical protein FLJ25078 IRF6 1q32.3-q41 interferon regulatory factor 6 MGC29875 1q32.2 hypothetical protein MGC29875 SYT14 1q32.2 synaptotagmin XIV DJ667H12.2 1q32.1-q41 hypothetical protein DJ667H12.2 LOC339397 1q32.2 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein LOC199827 1q32.2 ribonuclease H1 pseudogene FLJ10724 1q32 melanoma antigen recognized by T cells 2 KCNH1 1q32-q41 potassium voltage-gated channel, subfamily H (eag-related), member 1 LOC388733 1 similar to 40S ribosomal protein S25 LOC388734 1 similar to Px19-like protein (25 kDa protein of relevant evolutionary and lymphoid interest) (PRELI) (CGI-106) (SBBI12) FLJ10876 1q32.3 hypothetical protein FLJ10876 TRAF5 1q32 TNF receptor-associated factor 5 MGC14801 1q32.3 hypothetical protein MGC14801 LOC391160 1 similar to ARP2/3 complex 21 kDa subunit (p21-ARC) (Actin-related protein 2/3 complex subunit 3)
    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