UGT1A1

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Full nameUDP glucuronosyltransferase 1 family, polypeptide A1
EntrezGene54658
PheGenI54658
VariationViewer54658
ClinVarUGT1A1
dbSNP54658
SADR54658
HugeNav54658
wikipediaUGT1A1
googleUGT1A1
gopubmedUGT1A1
EVSUGT1A1
HEFalMpUGT1A1
23andMeUGT1A1
UniProtP22309
EnsemblENSG00000241635
OMIM191740
EVSUGT1A1
# SNPs26
  Max Magnitude Chromosome position Summary
Rs111033539 0 233,767,160
Rs111033540 0 233,768,333
Rs111033541 0 233,760,331
Rs281865418 0 233,761,127
Rs281875379 0 233,760,798
Rs28934877 0 233,768,333
Rs3064744 233,760,234
Rs34547608 0 233,760,182
Rs34815109 233,760,234
Rs34983651 233,760,233
Rs34993780 0 233,772,413
Rs35350960 0 233,760,973
Rs35600288 0 233,760,234
Rs4148323 0 233,760,498
Rs4148325 233,764,663
Rs5839491 234,668,885
Rs62625011 0 233,767,092
Rs6717546 233,773,473
Rs6742078 2.1 233,763,993
Rs72551341 0 233,760,811
Rs72551348 0 233,767,161
Rs72551349 0 233,767,873
Rs72551351 0 233,767,922
Rs72551353 0 233,768,259
Rs8175347 233,760,235
Rs887829 2 233,759,924

The UGT1A1 gene is located on chromosome 2, and it encodes a protein that modifies hepatic bilirubin in order to allow it to be excreted. SNPs that reduce the activity of the UGT1A1 gene therefore tend to increase serum bilirubin levels.

One particular variation in the promoter region of this gene, known as the UGT1A1*28 variant, has attracted the majority of attention, including an FDA approved genetic test applicable to potential users of the drugs irinotecan and tranilast. There are 4 SNPs in dbSNP that describe the same exact variation. They are: