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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
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 to bladder cancer
    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