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: 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: 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
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: 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: 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: 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: 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: 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
rs72551354 in
UGT1A6;UGT1A1;UGT1A4;UGT1A5;UGT1A8;UGT1A3;UGT1A10;UGT1A7;UGT1A9 gene and
Crigler Najjar syndrome, type 1
PMID 15712364 2005 Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.
PMID 11013440 2000 Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.
PMID 7989595 1994 Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.
PMID 23992562 2013 UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.
PMID 7906695 1994 Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.
PMID 1634050 1992 Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.
PMID 17229650 2007 Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.
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 7989045 1994 Here, we report eleven mutations (including nine novel mutations) of the B-UGT1 gene in a large series of 14 unrelated CN-I children of various geographic origins: France (seven patients: A401P, Q357X, W335X, A368T, 1223insG, A291V, K426E, K437X); Portugal (two patients: G308E); Tunisia (two patients; Q357R); Turkey (one patient: S381R); italy (two siblings: S381R).
PMID 8226884 1993 A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.