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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
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 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