UGT1A6 - UDP glucuronosyltransferase family 1 member A6 Gene

Homo sapiens

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

Gene ID: 54578 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15430	UGT1A6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	UGT1A6	RGD	RGD:620949

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