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FLASH GENE
Symbol UGT1A1 contributors: SGE/pgu - updated : 07-05-2010
HGNC name UDP glycosyltransferase 1 family, polypeptide A1
HGNC id 12530
Corresponding disease
CNS1 Crigler-Najjar syndrome 1
CNS2 Crigler-Najjar syndrome 2
GBTS Gilbert syndrome
Location 2q37.1      Physical location : 234.668.918 - 234.681.945
Synonym name
  • UDP-glucuronosyltransferase 1A1
  • bilirubin-specific UDPGT isozyme 1
  • bilirubin UDP-glucuronosyltransferase 1-1
  • bilirubin UDP-glucuronosyltransferase isozyme 1
  • Synonym symbol(s) GNT1, UGT1, UDPGT, UGT1A, HUG-BR1, UGT1-01
    EC.number 2.4.1.17
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text see UGT1A@
    STRUCTURE 13.00 kb     5 Exon(s)
    regulatory sequence Promoter
    Binding site   enhancer
    text structure
  • specific promoter/first exon spliced to common exons 2 to 5
  • phenobarbital -responsive enhancer module
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text a N specific terminal specific exon 1A1 spliced to the common 2 to 5 exons
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 2357 - 533 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   lowly
     intestinelarge intestinecolon  
     intestinesmall intestine  moderately
     intestinelarge intestinerectum moderately
     liver   highly
    Endocrinethyroid   lowly
    Nervousspinal cord   lowly
    Reproductivefemale systemuterus  lowly
    Respiratoryrespiratory tracttrachea  lowly
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningendometrium  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveenterocyte
    Digestivegoblet
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • free thiol groups, but not disulphide bonding, of seven cysteine residues within the intracisternal region important for its catalytic activity
  • cysteine residues in the cytosolic domain involved in its physiological activation by UDP-GlcNAc
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Ugt1a1 (79.6pc)
    homolog to rattus Ugt1a1 (80.2pc)
    Homologene
    FAMILY
  • UDP-glycosyltransferase family
  • CATEGORY enzyme , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    text intestine, ileum and jejunum microsomes
    basic FUNCTION
  • playing a major role in controlling serum bilirubin level, by detoxification of potentially neurotoxic bilirubin (conjugating it with glucuronic acid)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of a large chaperone multiprotein complex comprising CABP1, DNAJB11, HSP90B1, HSPA5, HYOU, PDIA2, PDIA4, PPIB, SDF2L1, UGT1A1 and very small amounts of ERP29
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CNS1 , GBTS , CNS2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in endometrial cancer
    Susceptibility
    Variant & Polymorphism repeat
  • UGT1A1*28 genotype and male gender predict an increased incidence of liver functional test abnormalities during pegvisomant therapy in acromegaly
  • patients carrying UGT1A1 *28 allele(s) are at an increased risk of irinotecan-induced severe diarrhoea
  • UGT1A1*1 polymorphism, which results in lower serum levels of the endogenous antioxidant bilirubin, was associated with an increased risk of head and neck cancer
  • UGT1A1 A(TA)(7)TAA allele is a potential risk factor for breast cancer in Caucasians
  • the c.-3279T>G mutation in the UGT1A1 promoter is a genetic risk factor for neonatal jaundice
  • rs6742078 variant explains 18percent of the variation in total of serum bilirubin levels
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    digestiveliver 
    variation of glucuronidation in patients with Gilbert Syndrome impacts drug therapy, particularly with drugs that have a narrow therapeutic spectrum
    ANIMAL & CELL MODELS