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FLASH GENE
Symbol AKR1B1 contributors: mct - updated : 24-08-2011
HGNC name aldo-keto reductase family 1, member B1 (aldose reductase)
HGNC id 381
Location 7q33      Physical location : 134.127.106 - 134.143.888
Synonym name
  • aldehyde reductase 1 (low Km aldose reductase)
  • Lii5-2 CTCL tumor antigen
  • Synonym symbol(s) AR, ALDR, ALDR1, MGC1804, ALR2
    EC.number 1.1.1.21
    DNA
    TYPE functioning gene
    STRUCTURE 16.78 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   HRE
    text structure
  • thyroid hormone (T(3)) receptor R element (TRE), localized to the -1099/-1028 region
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1416 35 316 - 2011 21306562
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelial    
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer monomer
    HOMOLOGY
    Homologene
    FAMILY
  • aldo-keto reductase family 1
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • aldo-ketoreductase, reducing aromatic and aliphatic aldehydes, with less activity than AKR1A1
  • obligatory mediator of TNF-alpha signaling leading to an increase in the expression of adhesion molecules and increased binding of monocytes to the endothelium (
  • implicated in the development of a number of diabetic complications
  • plays an important role in the regulation of hepatic PPARalpha phosphorylation and activity and lipid homeostasis
  • potent regulator of TGF-B1 induced expression of fibronectin in human mesangial cells, suggesing that inhibition of this enzyme may be useful to prevented extracellular matrix (ECM) deposition in glomerulosclerosis
  • first enzyme in the polyol pathway
  • prostaglandin F(2A) (PGF2A) synthase, which catalyze the NADPH-dependent reduction of PGH(2), a common intermediate of various prostanoids, to form PGF(2A)
  • regulates vascular smooth muscle cell proliferation by modulating G1/S phase transition of cell cycle
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other regulated by T3 (T(3) regulates AKR1B1 gene expression via a TRE-dependant mechanism and associates liver cancer)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in the endometrium, during the menstrual cycle during the secretory phase and in both epithelial and stromal cells
    tumoral     --over  
    over-expression in some types of hepatocellular carcinomas (HCCs) is (T3)receptor -dependent and might play a crucial role in the development of HCC
    Susceptibility
  • not associated to susceptibility to diabete nephropathy
  • to diabetic retinopathy in type 2 diabetes
  • Variant & Polymorphism other
  • type-2 diabetics with the CC genotype at C(-106)T polymorphism were more susceptible for developing retinopathy as a result of chronic hyperglycemia than those with the CT or TT genotype
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    reproductiongenital 
    potential target for treatment of menstrual disorders
    miscelleaneousvascular 
    inhibition of AK1B1 may be a useful therapeutic approach in preventing vascular complications
    diabetemetabolic syndrom 
    inhibition of AKR1B1 in diabetics may protect against damage in the brain and retina following ischemic reperfusion injury.
    immunologyinfectious 
    inhibition of this enzyme may be useful to attenuate maladaptive host responses and to treat acute cardiovascular dysfunction associated with endotoxic shock
    ANIMAL & CELL MODELS
  • deletion of Akr1b1 leads to less severe brain and retinal ischemic injuries in the diabetic db/db mouse