UGT1A6 - UDP glucuronosyltransferase family 1 member A6 Gene

Also Known as GNT1; UGT1; HLUGP; UDPGT; UGT1A; UGT1C; UGT1E; UGT1F; HLUGP1; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1.1; UGT1.3; UGT1.5; UGT1.6; UGT1A1; UGT1A3; UGT1A5; UGT1-01; UGT1-03; UGT1-05; UGT1-06; UGT1A6S; hUG-BR1; UDPGT 1-6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54578

About UGT1A6

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:233,691,702-233,773,300 (from NCBI)

This gene has 8 transcripts (splice variants), 1231 orthologues and 21 paralogues.

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 enzyme encoded by this gene is active on phenolic and planar compounds. Alternative splicing in the unique 5' end of this gene results in two transcript variants. [provided by RefSeq, Jul 2008]

UGT1A6 Products (2)

mRNA	Protein	Name
NM_001072.4	NP_001063.2	UDP-glucuronosyltransferase 1月6日 isoform 1 precursor
NM_205862.3	NP_995584.1	UDP-glucuronosyltransferase 1月6日 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	17179145	GOA
enables glucuronosyltransferase activity	IDA IDA: Inferred from direct assay	22579593	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	20610558	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	17179145	GOA
NOT enables retinoic acid binding	IDA IDA: Inferred from direct assay	20308471	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in cellular glucuronidation	IDA IDA: Inferred from direct assay	22579593	GOA
involved in xenobiotic metabolic process	IDA IDA: Inferred from direct assay	3141926	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	17179145	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

UGT1A6 Protein Structure

UDPGT

0
100
200
300
400
500
532 a.a.

Protein Preferred Names	Protein Names
UDP-glucuronosyltransferase 1-6	Bilirubin-specific UDPGT isozyme 1

Related Diseases

Diseases	Alias
Crigler-Najjar Syndrome, Type I	Crigler-Najjar Syndrome Crigler-Najjar Syndrome Type 1 Bilirubin Udp Glucuronyl Transferase Deficiency Crigler Najjar Syndrome Crigler Najjar Syndrome, Type 1 Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Bilirubin-Ugt Deficiency Hyperbilirubinemia, Crigler-Najjar Type I Hblrcn1 Familial Nonhemolytic Unconjugated Hyperbilirubinemia Hereditary Unconjugated Hyperbilirubinemia Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1 Bilirubin-Ugt Deficiency Type 1 Crigler-Najjar Syndrome 1 CN1 Cn-I Crigler-Najjar Syndrome Type I Hereditary Unconjugated Hyperbilirubinaemia Ugt Deficiency Bilirubin Glucuronosyltransferase Deficiency Crigler-Najjar Disease Or Syndrome Deficiency Of Glucuronosyltransferase Glucuronyl Transferase Deficiency Glucuronyltransferase Deficiency Udp Glucuronyl Transferase Deficiency Cns - [Crigler-Najjar Syndrome] Congenital Familial Nonhemolytic Jaundice
Bilirubin Metabolic Disorder	Hyperbilirubinemia Hereditary Hyperbilirubinemia Hyperbilirubinemia, Hereditary Hyperbilirubinaemia
Gilbert Syndrome	Gilbert Disease Gilbert'S Disease Gilbert'S Syndrome Cholemia, Familial Familial Nonhemolytic Jaundice Meulengracht Syndrome Gilbert Syndrome, Susceptibility To Hyperbilirubinemia, Gilbert Type Hblrg Hyperbilirubinemia, Arias Type Hyperbilirubinemia I Constitutional Hyperbilirubinemia Gilbert-Meulengracht Syndrome Hereditary Nonhemolytic Jaundice Hyperbilirubinemia Arias Type Hyperbilirubinemia Type 1 Constitutional Liver Dysfunction Gilbert-Lereboullet Syndrome Hyperbilirubinemia 1 Unconjugated Benign Bilirubinemia GILBS Gilberts Syndrome Familial Nonhaemolytic Jaundice Constitutional Hyperbilirubinaemia Hereditary Nonhaemolytic Bilirubinaemia Familial Nonhaemolytic Bilirubinaemia Idiopathic Hyperbilirubinaemia Icterus Intermittens Juvenilis Chronic Intermittent Juvenile Jaundice Low-Grade Chronic Hyperbilirubinaemia Syndrome Benign Unconjugated Bilirubinaemia Syndrome Hereditary Nonhaemolytic Jaundice Idiopathic Unconjugated Hyperbilirubinaemia Gilbert--Lereboullet Syndrome Constitutional Hepatic Dysfunction Meulengracht Icterus Cholaemia Familiaris Simplex Familial Cholaemia Congenital Familial Cholaemia Physiologic Cholaemia Hyperbilirubinaemia Type 1 Gilbert Cholaemia
Bilirubin, Serum Level Of, Quantitative Trait Locus 1	Bilirubin, Serum Level Of, Qtl1 BILIQTL1 Bilirubin, Serum Level Of, Quantitative Trait Locus, Type 1
Hyperbilirubinemia, Transient Familial Neonatal	Lucey-Driscoll Syndrome Transient Familial Neonatal Hyperbilirubinemia HBLRTFN Hyperbilirubinemia, Familial Transient Neonatal Hyperbilirubinemia Transient Familial Neonatal Transient Familial Hyperbilirubinemia
Crigler-Najjar Syndrome, Type Ii	Crigler-Najjar Syndrome Type 2 Hyperbilirubinemia, Crigler-Najjar Type Ii Hblrcn2 Arias Syndrome Crigler Najjar Syndrome Type 2 Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 2 Bilirubin-Ugt Deficiency Type 2 Crigler-Najjar Syndrome 2 CN2 Cn-Ii Crigler-Najjar Syndrome Type Ii Crigler Najjar Syndrome, Type 2
Cholelithiasis
Kernicterus	Bilirubin Encephalopathy Hyperbilirubinemic Encephalopathy Kernicterus Spectrum Disorder
Pigmentation Disease	Pigmentation Disorders Skin Pigmentation Disorder
Neonatal Jaundice	Neonatal Hyperbilirubinemia Neonatal Icterus Jaundice Neonatal Jaundice, Neonatal Hyperbilirubinemia, Neonatal
Dihydropyrimidine Dehydrogenase Deficiency	Dpd Deficiency Familial Pyrimidinemia Hereditary Thymine-Uraciluria Dihydropyrimidinuria Dpyd Deficiency Thymine-Uraciluria, Hereditary Pyrimidinemia, Familial 5-Fluorouracil Toxicity Dihydrouracil Dehydrogenase Deficiency Familial Pyrimidinaemia Thymine-Uracilurea Familial Pyrimidemia Pyrimidinemia Familial DPYDD
Acetaminophen Metabolism
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Malouf Syndrome Najjar Syndrome Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome Cardiogenital Syndrome Genital Anomaly With Cardiomyopathy Cardiomyopathy With Primary Testicular Failure Dilated Cardiomyopathy With Hypergonadotropic Hypogonadism Cardiomyopathy, Congestive, With Hypergonadotropic Hypogonadism Cardiomyopathy, Dilated, With Premature Ovarian Failure Cardiomyopathy Eith Primary Testicular Failure Congestive Cardiomyopathy With Hypergonadotropic Hypogonadism Dilated Cardiomyopathy With Premature Ovarian Failure CMDHH Cardiomyopathy Congestive With Hypergonadotropic Hypogonadism Cardiomyopathy Dilated With Premature Ovarian Failure
Nephrotic Syndrome, Type 20	NPHS20 Nephrotic Syndrome Type 20 Nephrotic Syndrome 20
Thiopurines, Poor Metabolism Of, 1	Thiopurine S-Methyltransferase Deficiency Tpmt Deficiency Thiopurine Methyltransferase Deficiency Thiopurine S Methyltranferase Deficiency THPM1 Tpmtd Poor Metabolism Of Thiopurines-1 6-Mercaptopurine Sensitivity Thiopurines, Poor Metabolism Of Poor Metabolism Of Thiopurines
Glucosephosphate Dehydrogenase Deficiency	G6pd Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency Deficiency Of Glucose-6-Phosphate Dehydrogenase Glucose 6 Phosphate Dehydrogenase Deficiency Deficiency Of G-6pd G6pdd
Hereditary Spherocytosis	Congenital Spherocytic Hemolytic Anemia Spherocytic Anemia Congenital Spherocytosis Spherocytosis, Type 1 Minkowski Chauffard Syndrome Hs Minkowski-Chauffard Disease Minkowski-Chauffard Syndrome Spherocytosis Hereditary Spherocytosis, Hereditary Anemia, Hereditary Spherocytic Hemolytic
Autosomal Dominant Beta Thalassemia	Inclusion Body Beta-Thalassemia
Sickle Cell Anemia	Hemoglobin Sc Disease Anemia, Sickle Cell Hbsc Disease Sickle Cell-Hemoglobin C Disease Syndrome Hb Ss Disease Sickle Cell Trait Drepanocytosis Haemoglobin Sc Disease Hb Sc Disease Hb-S/Hb-C Disease Hb-Ss Disease Without Crisis Hemoglobin S Disease Without Crisis Sickle Cell Anaemia Sickle-Cell/Hb-C Disease Without Crisis Sickle Cell - Hemoglobin C Disease Hbs Disease Hemoglobin S Disease Sickling Disorder Due To Hemoglobin S SKCA Sickle Cell Disease Sickle Cell-Hemoglobin C Disease Sickle-Cell Disease Carrier Sickle-Cell Heterozygous Disorder Haemoglobin A-S Genotype Hb-S - [Sickle Cell Haemoglobin] Carrier Sickle Cell Haemoglobin Trait As - [Sickle Cell Trait] Hbas - [Sickle Cell Haemoglobin Trait] Sickle-Cell Trait Haemoglobin Disease Haemoglobin Sickle Cell Trait Disorder Heterozygous Sickle Cell Trait Hbas - [Heterozygous Haemoglobin S]
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-119323	7-Azido-4-methylcoumarin		98.90%	Unkown
HY-N13388	5-Hydroxytryptophol-O-glucuronide		99.86%	Unkown
HY-RS15430	UGT1A6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W777236	N-Acetyl serotonin β-D-glucuronide		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	UGT1A6	RGD	RGD:620949