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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UGT1A4
UDP glucuronosyltransferase family 1 member A4
Chromosome 2 · 2q37.1
NCBI Gene: 54657Ensembl: ENSG00000244474.6HGNC: HGNC:12536UniProt: P22310
94PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
detoxificationvitamin D3 metabolic processenzyme bindingretinoic acid bindingCrigler-Najjar syndromeGilbert syndromeCrigler-Najjar syndrome type 1Crigler-Najjar syndrome type 2
✦AI Summary

UGT1A4 is a UDP-glucuronosyltransferase enzyme localized to the endoplasmic reticulum that catalyzes glucuronidation of diverse substrates including drugs, vitamins, and bile acids. Primary substrates include tertiary amines (imipramine, trifluoperazine, antipsychotics, anticonvulsants), vitamin D metabolites (25-hydroxyvitamin D3), and chenodeoxycholic acid 123. UGT1A4 functions through heterodimerization with other UGT1A isoforms, with coexpression of UGT1A1 and UGT1A6 modulating its catalytic activity in complex, substrate-dependent patterns 4. The enzyme exhibits significant genetic polymorphism; the UGT1A4*3 variant (Lys48Val) shows enhanced glucuronidation activity and influences drug metabolism and clinical efficacy 15. Functionally, UGT1A4-mediated glucuronidation is critical for clearance of lamotrigine and olanzapine, with genetic variants affecting serum concentrations and therapeutic responses 56. Additionally, UGT1A4 regulates bile acid homeostasis; microbiota-derived indole-3-carbinol represses UGT1A4 transcription to reduce pathogenic chenodeoxycholic acid glucuronidation, preventing bile acid-induced diarrhea 3. Emerging evidence suggests polygenetic influences on dexmedetomidine pharmacokinetics, though individual UGT1A4 polymorphism correlation remains weak 7. The enzyme is inducible by rifampin and other pregnane X receptor agonists, providing therapeutic opportunities for personalized drug dosing.

Sources cited
1
UGT1A4 catalyzes 25-hydroxyvitamin D3 glucuronidation; UGT1A4*3 variant shows enhanced activity; inducible by rifampin
PMID: 24641623
2
UGT1A4 catalyzes N-glucuronidation of tertiary amines and multiple drug substrates
PMID: 28803208
3
UGT1A4 mediates chenodeoxycholic acid-3β-glucuronide formation; repressed by microbiota-derived indole-3-carbinol
PMID: 39905483
4
UGT1A4 heterodimerizes with UGT1A1 and UGT1A6; coexpression modulates enzymatic activity substrate-dependently
PMID: 17620344
5
UGT1A4*3 polymorphism influences lamotrigine serum concentration and therapeutic efficacy
PMID: 39024362
6
UGT1A4*3 alleles associated with olanzapine safety and effectiveness variability
PMID: 34528455
7
UGT1A4 identified as pharmacogene affecting dexmedetomidine metabolism in pediatric patients
PMID: 39644147
Disease Associationsⓘ20
Crigler-Najjar syndromeOpen Targets
0.66Moderate
Gilbert syndromeOpen Targets
0.58Moderate
Crigler-Najjar syndrome type 1Open Targets
0.57Moderate
Crigler-Najjar syndrome type 2Open Targets
0.56Moderate
transient familial neonatal hyperbilirubinemiaOpen Targets
0.56Moderate
HyperbilirubinemiaOpen Targets
0.52Moderate
genetic disorderOpen Targets
0.51Moderate
bilirubin metabolism diseaseOpen Targets
0.43Moderate
porphyrin metabolism diseaseOpen Targets
0.39Weak
Abnormality of skin pigmentationOpen Targets
0.27Weak
cholelithiasisOpen Targets
0.22Weak
disorder of metabolite absorption and transportOpen Targets
0.21Weak
neonatal jaundiceOpen Targets
0.19Weak
JaundiceOpen Targets
0.18Weak
CholecystitisOpen Targets
0.16Weak
gallstonesOpen Targets
0.13Weak
hyperpituitarismOpen Targets
0.12Weak
vitamin D deficiencyOpen Targets
0.12Weak
COVID-19Open Targets
0.09Suggestive
vitamin deficiency disorderOpen Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UGDHProtein interaction100%ABCC2Protein interaction98%CYP1A2Protein interaction98%CYP2A6Protein interaction98%CYP3A7Protein interaction98%CYP2A13Protein interaction98%
Tissue Expression6 tissues
Liver
100%
Heart
0%
Lung
0%
Bone Marrow
0%
Ovary
0%
Brain
0%
Gene Interaction Network
Click a node to explore
UGT1A4UGDHABCC2CYP1A2CYP2A6CYP3A7CYP2A13
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P22310
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.03LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.76 [0.58–1.03]
RankingsWhere UGT1A4 stands among ~20K protein-coding genes
  • #5,115of 20,598
    Most Researched94 · top quartile
  • #10,147of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedUGT1A4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The pharmacogenetics of treatment with olanzapine.
PMID: 34528455
Pharmacogenomics · 2021
1.00
2
A systematic review of dexmedetomidine pharmacology in pediatric patients.
PMID: 39644147
Clin Transl Sci · 2024
0.90
3
Microbiota governs host chenodeoxycholic acid glucuronidation to ameliorate bile acid disorder induced diarrhea.
PMID: 39905483
Microbiome · 2025
0.80
4
Human UGT1A4 and UGT1A3 conjugate 25-hydroxyvitamin D3: metabolite structure, kinetics, inducibility, and interindividual variability.
PMID: 24641623
Endocrinology · 2014
0.70
5
Interactions between human UGT1A1, UGT1A4, and UGT1A6 affect their enzymatic activities.
PMID: 17620344
Drug Metab Dispos · 2007
0.60