UGT1A1

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Full nameUDP glucuronosyltransferase 1 family, polypeptide A1
EntrezGene54658
PheGenI54658
VariationViewer54658
dbSNP54658
SADR54658
HugeNav54658
wikipediaUGT1A1
googleUGT1A1
gopubmedUGT1A1
EVSUGT1A1
HEFalMpUGT1A1
23andMeUGT1A1
UniProtP22309
EnsemblENSG00000241635
OMIM191740
EVSUGT1A1
# SNPs25
  Max Magnitude Chromosome position Summary
Rs111033539 0 234,675,806
Rs111033540 0 234,676,979
Rs111033541 0 234,668,977
Rs281865418 0 234,669,773
Rs281875379 0 234,669,444
Rs28934877 0 234,676,979
Rs3064744 234,668,880
Rs34547608 0 234,668,828
Rs34815109 234,668,880
Rs34983651 234,668,879
Rs34993780 0 234,681,059
Rs35350960 0 234,669,619
Rs35600288 0 234,668,880
Rs4148323 0 234,669,144
Rs4148325 234,673,309
Rs5839491 234,668,885
Rs62625011 0 234,675,738
Rs6742078 2.1 234,672,639
Rs72551341 0 234,669,457
Rs72551348 0 234,675,807
Rs72551349 0 234,676,519
Rs72551351 0 234,676,568
Rs72551353 0 234,676,905
Rs8175347 234,668,881
Rs887829 2 234,668,570

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: