UGT1A1

UDP glucuronosyltransferase family 1 member A1

Pharmacogene

Summary

This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. [provided by RefSeq, Jul 2008]

Known Variants190 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1553620570	2:233,760,233	CAT/CATAT	intron variant	—
rs1051475353	2:234,665,643	A/G	—	likely benign
rs2472882312	2:234,667,579	C/T	—	likely benign
rs887829	2:234,668,879	C/T	regulatory	—
rs767607575	2:234,668,884	A/G	—	uncertain significance
rs760166727	2:234,668,888	A/G	—	benign
rs1006073064	2:234,668,952	G/A	—	uncertain significance
rs780253764	2:234,668,954	C/T	—	likely benign
rs749552053	2:234,668,955	G/A	—	conflicting classifications of pathogenicity
rs370790922	2:234,668,958	C/T	—	uncertain significance
rs760176104	2:234,668,969	C/T	—	likely benign
rs1697406226	2:234,668,978	G/C	—	likely benign
rs897355036	2:234,668,990	G/A	—	likely benign
rs764918207	2:234,669,005	G/A	—	likely benign
rs994298046	2:234,669,011	T/C	—	likely benign
rs375204962	2:234,669,022	T/C	—	uncertain significance
rs2472933388	2:234,669,025	T/G	—	uncertain significance
rs780016114	2:234,669,043	G/A	—	uncertain significance
rs1018382617	2:234,669,044	C/A	—	likely benign
rs1183811071	2:234,669,051	T/C	—	conflicting classifications of pathogenicity
rs533404227	2:234,669,058	G/A	—	uncertain significance
rs1178608845	2:234,669,064	T/A	—	uncertain significance
rs886044683	2:234,669,070	C/T	—	uncertain significance
rs886044249	2:234,669,071	C/T	—	uncertain significance
rs34526305	2:234,669,074	C/A	—	uncertain significance
rs747942373	2:234,669,075	C/G	—	uncertain significance
rs2125984045	2:234,669,082	T/G	—	uncertain significance
rs149071335	2:234,669,092	G/A	—	conflicting classifications of pathogenicity
rs2472939429	2:234,669,097	A/G	—	uncertain significance
rs140365717	2:234,669,100	A/C	—	uncertain significance
rs1297484811	2:234,669,108	G/T	—	uncertain significance
rs370892808	2:234,669,112	T/C	—	uncertain significance
rs1273237448	2:234,669,115	C/G	—	uncertain significance
rs191471887	2:234,669,122	C/T	—	conflicting classifications of pathogenicity
rs762109713	2:234,669,127	C/T	—	uncertain significance
rs767800703	2:234,669,128	G/A	—	uncertain significance
rs750890851	2:234,669,129	T/C	—	likely benign
rs2125984867	2:234,669,133	A/T	—	uncertain significance
rs1553620689	2:234,669,143	C/G	—	uncertain significance
rs4148323	2:234,669,144	G/A	missense	drug response
rs72551340	2:234,669,155	C/A	—	pathogenic
rs1397137648	2:234,669,177	C/G	—	uncertain significance
rs56059937	2:234,669,180	T/C	—	pathogenic
rs1321370763	2:234,669,187	G/A	—	uncertain significance
rs146052898	2:234,669,215	T/C	—	likely benign
rs1208621089	2:234,669,219	G/A	—	uncertain significance
rs1287104845	2:234,669,220	G/A	—	uncertain significance
rs769310438	2:234,669,221	G/A	—	uncertain significance
rs138183896	2:234,669,227	T/C	—	conflicting classifications of pathogenicity
rs374655757	2:234,669,233	T/C	—	uncertain significance
rs587784538	2:234,669,255	C/T	—	uncertain significance
rs144217005	2:234,669,259	T/C	—	conflicting classifications of pathogenicity
rs200734586	2:234,669,287	G/T	—	uncertain significance
rs2472953662	2:234,669,288	G/A	—	uncertain significance
rs751311281	2:234,669,291	T/C	—	uncertain significance
rs1697515818	2:234,669,294	G/C	—	uncertain significance
rs1191873899	2:234,669,319	A/G	—	uncertain significance
rs1697524405	2:234,669,320	C/G	—	uncertain significance
rs2472955721	2:234,669,328	A/G	—	uncertain significance
rs1553620770	2:234,669,332	C/G	—	uncertain significance
rs768185321	2:234,669,347	C/G	—	likely benign
rs1559407347	2:234,669,361	G/A	—	uncertain significance
rs765894633	2:234,669,404	C/T	—	likely benign
rs587784539	2:234,669,409	T/C	—	uncertain significance
rs199766420	2:234,669,410	C/T	—	conflicting classifications of pathogenicity
rs587784540	2:234,669,412	T/A	—	uncertain significance
rs2472960744	2:234,669,439	T/A	—	uncertain significance
rs780028785	2:234,669,443	C/A	—	uncertain significance
rs748734877	2:234,669,449	G/T	—	uncertain significance
rs1373930486	2:234,669,463	G/A	—	pathogenic
rs148755655	2:234,669,473	A/G	—	conflicting classifications of pathogenicity
rs760019185	2:234,669,492	C/T	—	uncertain significance
rs201093245	2:234,669,508	A/G	—	uncertain significance
rs375974892	2:234,669,510	G/A	—	uncertain significance
rs2125988381	2:234,669,511	T/A	—	uncertain significance
rs767764203	2:234,669,517	G/A	—	uncertain significance
rs1553620840	2:234,669,525	T/C	—	uncertain significance
rs550460320	2:234,669,529	C/G	—	uncertain significance
rs1171527500	2:234,669,544	T/C	—	uncertain significance
rs766170365	2:234,669,547	C/T	—	uncertain significance
rs72551343	2:234,669,558	C/T	—	pathogenic
rs770299996	2:234,669,602	C/T	—	likely benign
rs749836255	2:234,669,605	C/T	—	likely benign
rs144721642	2:234,669,606	G/A	—	uncertain significance
rs1355767569	2:234,669,610	T/C	—	uncertain significance
rs753668254	2:234,669,620	G/A	—	likely benign
rs147640261	2:234,669,628	C/A	—	uncertain significance
rs145912061	2:234,669,652	G/A	—	uncertain significance
rs1697654904	2:234,669,690	G/T	—	uncertain significance
rs760907397	2:234,669,726	C/T	—	uncertain significance
rs200102302	2:234,669,734	C/T	—	conflicting classifications of pathogenicity
rs143072292	2:234,669,750	G/T	—	uncertain significance
rs72551345	2:234,669,759	G/C	—	pathogenic
rs397978903	2:234,669,768	A/T	—	conflicting classifications of pathogenicity
rs754213125	2:234,669,771	T/G	—	uncertain significance
rs142418984	2:234,669,782	A/G	—	likely benign
rs1276914496	2:234,669,807	G/A	—	likely benign
rs1699312336	2:234,675,680	G/A	—	uncertain significance
rs778321344	2:234,675,715	T/C	—	likely benign
rs770930440	2:234,675,722	G/A	—	uncertain significance

Showing 100 of 190 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.