Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54658
Gene name Gene Name - the full gene name approved by the HGNC.
UDP glucuronosyltransferase family 1 member A1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UGT1A1
Synonyms (NCBI Gene) Gene synonyms aliases
BILIQTL1, GNT1, HUG-BR1, UDPGT, UDPGT 1-1, UGT1, UGT1A
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q37.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 comp
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1473325 hsa-miR-1202 CLIP-seq
MIRT1473326 hsa-miR-136 CLIP-seq
MIRT1473327 hsa-miR-3120-5p CLIP-seq
MIRT1473328 hsa-miR-3130-3p CLIP-seq
MIRT1473329 hsa-miR-3194-5p CLIP-seq
Transcription factors
Transcription factor Regulation Reference
AHR Activation 18172616
HNF1A Activation 18172616
NR1I2 Activation 18172616
NR1I3 Activation 18172616
NR1I3 Unknown 11343253
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001889 Process Liver development IEA
GO:0001972 Function Retinoic acid binding IDA 20308471
GO:0004857 Function Enzyme inhibitor activity IDA 19996319
GO:0005496 Function Steroid binding IDA 19996319
GO:0005783 Component Endoplasmic reticulum IDA 17179145
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
191740 12530 ENSG00000241635
Protein
UniProt ID P22309
Protein name UDP-glucuronosyltransferase 1A1 (UGT1A1) (EC 2.4.1.17) (Bilirubin-specific UDPGT isozyme 1) (hUG-BR1) (UDP-glucuronosyltransferase 1-1) (UDPGT 1-1) (UGT1*1) (UGT1-01) (UGT1.1) (UDP-glucuronosyltransferase 1A isoform 1)
Protein function [Isoform 1]: UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion i
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00201 UDPGT 28 524 UDP-glucoronosyl and UDP-glucosyl transferase Family
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Expressed in liver, colon and small intestine. Not expressed in kidney, esophagus and skin. {ECO:0000269|PubMed:1339448, ECO:0000269|PubMed:17187418, ECO:0000269|PubMed:18004212}.; TISSUE SPECIFICITY: [Isoform 2]: Expresse
Sequence
Sequence length 533
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Pentose and glucuronate interconversions
Ascorbate and aldarate metabolism
Steroid hormone biosynthesis
Retinol metabolism
Porphyrin metabolism
Metabolism of xenobiotics by cytochrome P450
Drug metabolism - cytochrome P450
Drug metabolism - other enzymes
Metabolic pathways
Biosynthesis of cofactors
Bile secretion
Chemical carcinogenesis - DNA adducts
Chemical carcinogenesis - receptor activation
  Glucuronidation
Defective UGT1A1 causes hyperbilirubinemia
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cerebral palsy Cerebral Palsy rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513
Crigler-najjar syndrome Crigler Najjar syndrome, type 1, Crigler Najjar syndrome, type 2, Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome type 2 rs587776761, rs72551353, rs111033539, rs72551349, rs72551348, rs587776762, rs62625011, rs281865418, rs587776763, rs587776764, rs587776765, rs587776766, rs34993780, rs72551351, rs111033541
View all (7 more)
15712364, 7989595, 23992562, 24816252, 7989045, 11182932, 9039987, 11013440, 7906695, 1634050, 26697581, 17229650, 25370011, 9295054, 19830808
View all (14 more)
Dermatitis Contact Dermatitis rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 25724174
Epileptic encephalopathy Encephalopathies rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625
View all (860 more)
Unknown
Disease term Disease name Evidence References Source
Hodgkin lymphoma Adult Hodgkin Lymphoma 18768784 ClinVar
Gilbert Disease Gilbert syndrome GenCC
Metabolic Syndrome Metabolic Syndrome GWAS
Cholelithiasis Cholelithiasis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acute Kidney Injury Associate 39522022
Adenocarcinoma Associate 28056823, 28493308, 32058557, 35328047, 38250763
Adenocarcinoma of Lung Associate 24047243, 35328047
Alopecia Associate 25202035
alpha Thalassemia Associate 16628735, 32751969
Anemia Hemolytic Associate 34672909
Anemia Sickle Cell Associate 15388579, 16628735, 17593033, 18392554, 18756540, 22558097, 23827693, 24060717, 24167350, 24204915, 26146896, 31619193
Asthenia Associate 29504153
beta Thalassemia Associate 11843828, 24204915
Bile Duct Diseases Associate 40184140