Description: Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA. RefSeq Summary (NM_001072): 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]. Transcript (Including UTRs) Position: hg19 chr2:234,601,512-234,681,951 Size: 80,440 Total Exon Count: 5 Strand: + Coding Region Position: hg19 chr2:234,601,651-234,681,205 Size: 79,555 Coding Exon Count: 5
ID:UD16_HUMAN DESCRIPTION: RecName: Full=UDP-glucuronosyltransferase 1-6; Short=UDPGT 1-6; Short=UGT1*6; Short=UGT1-06; Short=UGT1.6; EC=2.4.1.17; AltName: Full=Phenol-metabolizing UDP-glucuronosyltransferase; AltName: Full=UDP-glucuronosyltransferase 1-F; Short=UGT-1F; Short=UGT1F; AltName: Full=UDP-glucuronosyltransferase 1A6; Flags: Precursor; FUNCTION: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform has specificity for phenols. CATALYTIC ACTIVITY: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside. SUBCELLULAR LOCATION: Microsome. Endoplasmic reticulum membrane; Single-pass membrane protein (Potential). TISSUE SPECIFICITY: Expressed in skin, kidney and liver. POLYMORPHISM: Polymorphisms in the UGT1A6 gene define four common haplotypes: UGT1A6*1, UGT1A6*2, UGT1A6*3 and UGT1A6*4. Liver tissue samples that were homozygous for UGT1A6*2 exhibited a high rate of glucuronidation relative to tissues with other genotypes. Biochemical kinetic studies indicate that the UGT1A6*2 allozyme, expressed homozygously, had almost two-fold greater activity toward p-nitrophenol than UGT1A6*1 and when expressed heterozygously (UGT1A6*1/*2) it is associated with low enzyme activity. Common genetic variation in UGT1A6 confers functionally significant differences in biochemical phenotype. This genetic variation might impact clinical efficacy or toxicity of drugs metabolized by UGT1A6. SIMILARITY: Belongs to the UDP-glycosyltransferase family.
Anemia, Sickle Cell Jacqueline N Milton et al. PloS one 2012, A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia., PloS one.
[PubMed 22558097]
benzene toxicity Sun, P. et al. 2007, Genetic polymorphisms of MPO, NQO1, GSTP1, UGT1A6 associated with susceptibility of chronic benzene poisoning, Wei Sheng Yan Jiu 2007 36(1) 11-5.
[PubMed 17424838]
The subjects carrying allele of MPO rs7208693 A and UGT1A6 rs6759892 G or rs1105879 C at the same time could be more susceptible to BP.
Bilirubin Andrew D Johnson et al. Human molecular genetics 2009, Genome-wide association meta-analysis for total serum bilirubin levels., Human molecular genetics.
[PubMed 19414484]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P19224
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.