Gene: UGT1A3
Alternate names for this Gene: UDPGT|UDPGT 1-3|UGT-1C|UGT1-03|UGT1.3|UGT1A3S|UGT1C
Gene 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. Substrates of this enzyme include estrone, 2-hydroxyestrone, and metabolites of benzo alpha-pyrene.
Gene is located in Chromosome: 2
Location in Chromosome : 2q37.1
Description of this Gene: UDP glucuronosyltransferase family 1 member A3
Type of Gene: protein-coding
Gene: UGT1A1
Alternate names for this Gene: BILIQTL1|GNT1|HUG-BR1|UDPGT|UDPGT 1-1|UGT1|UGT1A
Gene 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 preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome.
Gene is located in Chromosome: 2
Location in Chromosome : 2q37.1
Description of this Gene: UDP glucuronosyltransferase family 1 member A1
Type of Gene: protein-coding
Gene: UGT1A9
Alternate names for this Gene: HLUGP4|LUGP4|UDPGT|UDPGT 1-9|UGT-1I|UGT1-09|UGT1-9|UGT1.9|UGT1A9S|UGT1AI|UGT1I
Gene 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 phenols.
Gene is located in Chromosome: 2
Location in Chromosome : 2q37.1
Description of this Gene: UDP glucuronosyltransferase family 1 member A9
Type of Gene: protein-coding
Gene: UGT1A10
Alternate names for this Gene: GNT1|UDPGT|UGT-1A|UGT-1J|UGT1|UGT1-01|UGT1-10|UGT1.1|UGT1.10|UGT1A|UGT1A1|UGT1J|hUG-BR1
Gene 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 has glucuronidase activity on mycophenolic acid, coumarins, and quinolines.
Gene is located in Chromosome: 2
Location in Chromosome : 2q37.1
Description of this Gene: UDP glucuronosyltransferase family 1 member A10
Type of Gene: protein-coding
Gene: UGT1A6
Alternate names for this Gene: GNT1|HLUGP|HLUGP1|UDPGT|UDPGT 1-6|UGT-1A|UGT-1C|UGT-1E|UGT1|UGT1-01|UGT1-03|UGT1-05|UGT1.1|UGT1.3|UGT1.5|UGT1A|UGT1A1|UGT1A3|UGT1A5|UGT1A6S|UGT1C|UGT1E|UGT1F|hUG-BR1
Gene 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.
Gene is located in Chromosome: 2
Location in Chromosome : 2q37.1
Description of this Gene: UDP glucuronosyltransferase family 1 member A6
Type of Gene: protein-coding
Gene: UGT1A7
Alternate names for this Gene: GNT1|UDPGT|UDPGT 1-7|UGT-1A|UGT-1G|UGT1|UGT1-01|UGT1-07|UGT1.1|UGT1.7|UGT1A|UGT1A1|UGT1G|hUG-BR1
Gene 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 has moderate glucuronidase activity with phenols.
Gene is located in Chromosome: 2
Location in Chromosome : 2q37.1
Description of this Gene: UDP glucuronosyltransferase family 1 member A7
Type of Gene: protein-coding
Gene: UGT1A8
Alternate names for this Gene: GNT1|UDPGT|UDPGT 1-8|UGT-1A|UGT-1H|UGT1|UGT1-01|UGT1-08|UGT1.1|UGT1.8|UGT1A|UGT1A1|UGT1A8S|UGT1H|hUG-BR1
Gene 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 has glucuronidase activity with many substrates including coumarins, phenols, anthraquinones, flavones, and some opioids.
Gene is located in Chromosome: 2
Location in Chromosome : 2q37.1
Description of this Gene: UDP glucuronosyltransferase family 1 member A8
Type of Gene: protein-coding
Gene: UGT1A5
Alternate names for this Gene: UDPGT|UDPGT 1-5|UGT1E
Gene 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.
Gene is located in Chromosome: 2
Location in Chromosome : 2q37.1
Description of this Gene: UDP glucuronosyltransferase family 1 member A5
Type of Gene: protein-coding
Gene: UGT1A4
Alternate names for this Gene: GNT1|HUG-BR2|UDPGT|UDPGT 1-4|UGT-1A|UGT-1D|UGT1|UGT1-01|UGT1-04|UGT1.1|UGT1.4|UGT1A|UGT1A1|UGT1A4S|UGT1D|hUG-BR1
Gene 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. This enzyme has some glucuronidase activity towards bilirubin, although is is more active on amines, steroids, and sapogenins.
Gene is located in Chromosome: 2
Location in Chromosome : 2q37.1
Description of this Gene: UDP glucuronosyltransferase family 1 member A4
Type of Gene: protein-coding
rs397978903 in
UGT1A3;UGT1A1;UGT1A9;UGT1A10;UGT1A6;UGT1A7;UGT1A8;UGT1A5;UGT1A4 gene and
Crigler Najjar syndrome, type 2
PMID 23099197 2013 Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia.
PMID 8276413 1993 Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.
PMID 8280139 1993 Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II.
PMID 7989595 1994 Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.
PMID 18004206 2007 Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates.
PMID 15712364 2005 Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.
PMID 23992562 2013 UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.
PMID 9639672 1998 Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease.
PMID 17229650 2007 Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.
PMID 9621515 1998 Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II.
PMID 8706880 1996 A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II.
PMID 12402338 2002 Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome.
PMID 11370628 2001 Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus.
PMID 19830808 2010 Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.
PMID 11013440 2000 Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.
PMID 14550264 2003 Rapid proteasomal degradation of translocation-deficient UDP-glucuronosyltransferase 1A1 proteins in patients with Crigler-Najjar type II.