The UGT1A1 gene homepage

General information
Gene symbol UGT1A1
Gene name UDP glucuronosyltransferase 1 family, polypeptide A1
Chromosome 2
Chromosomal band q37
Imprinted Unknown
Genomic reference NG_033238.1
Transcript reference NM_000463.2
Exon/intron information NM_000463.2 exon/intron table
Associated with diseases BILIQTL1, Crigler-Najjar, Crigler-Najjar I, Crigler-Najjar II, Gilbert syndrome, HBLRTFN
Citation reference(s) PubMed: Canu 2013
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 701
Unique public DNA variants reported 176
Individuals with public variants 1906
Hidden variants 3
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated January 24, 2023
Version UGT1A1:230124

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000463.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 12530
Entrez Gene 54658
PubMed articles UGT1A1
OMIM - Gene 191740
OMIM - Diseases BILIQTL1 (bilirubin, serum level of, quantitative trait locus, type 1)
Crigler-Najjar I (Crigler-Najjar syndrome, type I)
Crigler-Najjar II (Crigler-Najjar syndrome, type II)
Gilbert syndrome
HBLRTFN (hyperbilirubinemia, familial transient neonatal (Lucey-Driscoll syndrome (HBLRTFN)))
GeneCards UGT1A1
GeneTests UGT1A1
Orphanet UGT1A1

Active transcripts




NCBI ID     

NCBI Protein ID     

00022338 2 UDP glucuronosyltransferase 1 family, polypeptide A1 NM_000463.2 NP_000454.1 701

Copyright & disclaimer
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