UGT1A3 (UDP glucuronosyltransferase family 1 member A3)

Gene

• Entrez ID: 54659
• Gene name: UDP glucuronosyltransferase family 1 member A3
• Gene symbol: UGT1A3
• Synonyms (NCBI Gene): UDPGT, UDPGT 1-3, UGT-1C, UGT1-03, UGT1.3, UGT1A3S, UGT1C
• Chromosome: 2
• Chromosome location: 2q37.1
• 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 comp

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1473357	hsa-miR-1202	CLIP-seq
MIRT1473358	hsa-miR-136	CLIP-seq
MIRT1473359	hsa-miR-3120-5p	CLIP-seq
MIRT1473360	hsa-miR-3130-3p	CLIP-seq
MIRT1473361	hsa-miR-3194-5p	CLIP-seq
MIRT1473362	hsa-miR-346	CLIP-seq
MIRT1473363	hsa-miR-3909	CLIP-seq
MIRT1473364	hsa-miR-3940-5p	CLIP-seq
MIRT1473365	hsa-miR-3972	CLIP-seq
MIRT1473366	hsa-miR-4288	CLIP-seq
MIRT1473367	hsa-miR-4421	CLIP-seq
MIRT1473368	hsa-miR-4507	CLIP-seq
MIRT1473369	hsa-miR-4766-5p	CLIP-seq
MIRT1473370	hsa-miR-4793-3p	CLIP-seq
MIRT1473371	hsa-miR-489	CLIP-seq
MIRT1473372	hsa-miR-514	CLIP-seq
MIRT1473373	hsa-miR-514b-3p	CLIP-seq
MIRT1473374	hsa-miR-548a-5p	CLIP-seq
MIRT1473375	hsa-miR-548ab	CLIP-seq
MIRT1473376	hsa-miR-548ak	CLIP-seq
MIRT1473377	hsa-miR-548b-5p	CLIP-seq
MIRT1473378	hsa-miR-548c-5p	CLIP-seq
MIRT1473379	hsa-miR-548d-5p	CLIP-seq
MIRT1473380	hsa-miR-548h	CLIP-seq
MIRT1473381	hsa-miR-548i	CLIP-seq
MIRT1473382	hsa-miR-548j	CLIP-seq
MIRT1473383	hsa-miR-548n	CLIP-seq
MIRT1473384	hsa-miR-548w	CLIP-seq
MIRT1473385	hsa-miR-548y	CLIP-seq
MIRT1473386	hsa-miR-559	CLIP-seq
MIRT1473387	hsa-miR-629	CLIP-seq
MIRT1473388	hsa-miR-632	CLIP-seq
MIRT2142601	hsa-miR-579	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001972	Function	Retinoic acid binding	IDA	20308471
GO:0004857	Function	Enzyme inhibitor activity	ISS	20610558
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	17179145
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	NAS	20610558
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IKR	20610558
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	20610558
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006805	Process	Xenobiotic metabolic process	IDA	20056724
GO:0006805	Process	Xenobiotic metabolic process	IKR	20610558
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0008194	Function	UDP-glycosyltransferase activity	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008210	Process	Estrogen metabolic process	IDA	18719240
GO:0008210	Process	Estrogen metabolic process	ISS
GO:0009812	Process	Flavonoid metabolic process	IDA	20056724
GO:0015020	Function	Glucuronosyltransferase activity	IDA	17179145, 18052087, 18719240, 20056724, 20308471, 21422672, 22579593
GO:0015020	Function	Glucuronosyltransferase activity	IEA
GO:0015020	Function	Glucuronosyltransferase activity	IKR	20610558
GO:0015020	Function	Glucuronosyltransferase activity	ISS	20610558
GO:0015020	Function	Glucuronosyltransferase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0019899	Function	Enzyme binding	IBA
GO:0019899	Function	Enzyme binding	IEA
GO:0019899	Function	Enzyme binding	IPI	17179145, 20610558
GO:0032782	Process	Bile acid secretion	IDA	23756265
GO:0042573	Process	Retinoic acid metabolic process	IC	20308471
GO:0042803	Function	Protein homodimerization activity	IDA	17179145
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0045922	Process	Negative regulation of fatty acid metabolic process	ISS	20610558
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	20610558
GO:0070640	Process	Vitamin D3 metabolic process	IDA	23756265

Other IDs

• MIM: 606428
• HGNC: 12535
• e!Ensembl: ENSG00000288702

Protein

• UniProt ID: P35503
• Protein name: UDP-glucuronosyltransferase 1A3 (UGT1A3) (EC 2.4.1.17) (UDP-glucuronosyltransferase 1-3) (UDPGT 1-3) (UGT1*3) (UGT1-03) (UGT1.3) (UDP-glucuronosyltransferase 1-C) (UGT-1C) (UGT1C) (UDP-glucuronosyltransferase 1A isoform 3)
• 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	29 → 525	UDP-glucoronosyl and UDP-glucosyl transferase	Family

• Tissue specificity: TISSUE SPECIFICITY: [Isoform 1]: Expressed in liver, kidney, colon, esophagus and small intestine. {ECO:0000269|PubMed:18004212}.; TISSUE SPECIFICITY: [Isoform 2]: Expressed in liver, kidney and colon. Not expressed in esophagus and small intestine. {ECO:
• Sequence:

  MATGLQVPLPWLATGLLLLLSVQPWAESGKVLVVPIDGSHWLSMREVLRELHARGHQAVV
  LTPEVNMHIKEENFFTLTTYAISWTQDEFDRHVLGHTQLYFETEHFLKKFFRSMAMLNNM
  SLVYHRSCVELLHNEALIRHLNATSFDVVLTDPVNLCAAVLAKYLSIPTVFFLRNIPCDL
  DFKGTQCPNPSSYIPRLLTTNSDHMTFMQRVKNMLYPLALSYICHAFSAPYASLASELFQ
  REVSVVDILSHASVWLFRGDFVMDYPRPIMPNMVFIGGINCANRKPLSQEFEAYINASGE
  HGIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQND
  LLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKRMETKGAGVTLNVLEMT
  SEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAH
  DLTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH

• Sequence length: 534

Pathways

KEGG:

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

Reactome:

Glucuronidation
NR1H2 & NR1H3 regulate gene expression to control bile acid homeostasis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BILIRUBIN METABOLISM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRIGLER NAJJAR SYNDROME, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRIGLER NAJJAR SYNDROME, TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRIGLER-NAJJAR SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILBERT DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Levothyroxine response	other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUCEY-DRISCOLL SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERINATAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30889488		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	18161889		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	12850481		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	GWASCAT_DG	22558097		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	25192553		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	19021734		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21902811		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34886806	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	27690298		★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	11425418, 11843828, 14555305		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	11425418, 11843828, 14555305, 19021734		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholelithiasis	GWASCAT_DG	22558097		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholelithiasis	GWASDB_DG	22558097		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholecystolithiasis	Pubtator	39840844	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	BEFREE	19889628, 20189675		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24677636	Associate	★☆☆☆☆ Found in Text Mining only
Crigler Najjar syndrome, type 1	Crigler-Najjar syndrome	BEFREE	11013440, 12378576, 18180294, 19845429, 7906695, 7989045, 9039987, 9435989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crigler Najjar syndrome, type 1	Crigler-Najjar syndrome	CLINVAR_DG	11182932, 15712364, 26697581		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crigler Najjar syndrome, type 2	Crigler-Najjar syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26628212		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	24910925		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	22476391		★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	Pubtator	31075877	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	30822514		★☆☆☆☆ Found in Text Mining only
Generalized glycogen storage disease of infants	Glycogen Storage Disease	BEFREE	28363873		★☆☆☆☆ Found in Text Mining only
Gilbert Disease (disorder)	Gilbert Disease	BEFREE	11843828, 12012638, 19021734, 19303655, 19845429, 20194756		★☆☆☆☆ Found in Text Mining only
Gilbert Disease (disorder)	Gilbert Disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	28363873		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	19303655, 20194756, 21983082, 26480925, 9748558		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia, Neonatal	Hyperbilirubinemia	BEFREE	21983082, 28025333, 28340583		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	25778466, 26352872		★☆☆☆☆ Found in Text Mining only
Lucey-Driscoll syndrome (disorder)	Lucey-Driscoll syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25743847		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25452636		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30307765, 30724669		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	18180294		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASCAT_DG	30621171		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25743847		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	25778466, 26352872		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	GWASCAT_DG	25246029		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25743847		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25743847	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25452636		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	21822266		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	25778466		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25712374	Associate	★☆☆☆☆ Found in Text Mining only
Thalassemia Intermedia	Thalassemia	BEFREE	12850481		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	24910925	Associate	★☆☆☆☆ Found in Text Mining only
Unconjugated hyperbilirubinemia	Hyperbilirubinemia	BEFREE	12439228, 9435989		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36124064	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum	BEFREE	17549067		★☆☆☆☆ Found in Text Mining only