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Gene Symbol |
UGT1A1 |
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Aliases |
BILIQTL1, GNT1, HUG-BR1, UDPGT, UDPGT 1-1, UGT1, UGT1A |
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Entrez Gene ID |
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Gene Name |
UDP glucuronosyltransferase family 1 member A1 |
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Chromosomal Location |
2q37.1 |
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HGNC ID |
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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. [provided by RefSeq, Jul 2008]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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| Protein Information |
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Protein Name |
UDP-glucuronosyltransferase 1-1, UDP glucuronosyltransferase 1 family, polypeptide A1, UDP glycosyltransferase 1 family, polypeptide A1, UDP-glucuronosyltransferase 1-A, UDP-glucuronosyltransferase 1A1, UGT-1A, UGT1*1, UGT1-01, UGT1.1, bilirubin UDP-glucuronosyltranserase, bilirubin UDP-glucuronosyltransferase 1-1, bilirubin UDP-glucuronosyltransferase isozyme 1, bilirubin-specific UDPGT isozyme 1 |
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Function |
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UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX-alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Is also able to catalyze the glucuronidation of 17beta-estradiol, 17alpha-ethinylestradiol, 1-hydroxypyrene, 4-methylumbelliferone, 1-naphthol, paranitrophenol, scopoletin, and umbelliferone. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1 |
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UniProt |
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Pfam |
| Pfam Accession |
Pfam ID |
| PF00201 |
UDPGT |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000384092 |
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P01189 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Blood Disorders |
| Neutropenia |
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| Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| Hyperbilirubinemia |
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| Genetic Diseases |
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| Kernicterus |
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| Digestive System Diseases |
| Cholestasis |
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| Endocrine System Diseases |
| PCOS |
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| Neoplasms |
| Hodgkin Disease |
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| Carcinoma |
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| Lymphoma |
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| Nutritional and Metabolic Diseases |
| Crigler Najjar syndrome |
7906695, 19830808, 23992562, 15712364, 8226884, 7989045, 1634050, 17229650, 7989595, 8276413, 7936809, 1692835, 9039987, 9497253, 14616765, 1634606, 15586176, 11968090, 25370011, 18004206, 9621515, 8706880, 12402338, 11370628, 8280139, 9639672, 14550264, 23099197, 805737, 11061796 |
| Obesity |
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| Gilbert Disease |
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| Lucey-Driscoll syndrome |
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| Renal Disorder |
| Kidney Failure |
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| Kidney Insufficiency |
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| Skin and Connective Tissue Diseases |
| Dermatitis |
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References |
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| Gonzalez D, Thackeray H, Lewis P D, Mantani A, Brook N, Ahuja K, Margara R, Joels L, White J O, Conlan R S |
| Institute of Life Science, Swansea University, College of Medicine, and Singleton Hospital, Swansea SA2 8PP, United Kingdom. |
| J Clin Endocrinol Metab. 2012 Mar;97(3):957-66. doi: 10.1210/jc.2011-2366. Epub |
Abstract
CONTEXT: In fertile patients the endometrial Wilms tumor suppressor gene (WT1) is expressed during the window of implantation. Polycystic ovary syndrome (PCOS) patients suffer from hyperandrogenemia and infertility and have elevated endometrial androgen receptor (AR) expression. WT1 is known to be down-regulated by AR. Therefore, the expression of WT1 and its targets may be altered in PCOS endometrium. OBJECTIVE: The objective of the study was to assess the expression and regulation of WT1 and selected downstream targets in secretory endometrium from ovulatory PCOS (ovPCOS) and fertile women. DESIGN AND PATIENTS: Endometrial samples were obtained from 25 ovPCOS and 25 fertile patients. MAIN OUTCOME MEASURE: Endometrial expression of WT1 and selected downstream targets were assessed by immunohistochemistry and RT-PCR. The androgen effect on WT1 expression was determined in vitro by immunoblots and RT-PCR. The expression of WT1 and its targets was quantified in fertile and ovPCOS stromal cells in the presence of androgens by RT-PCR. Caspase-3/7 activity was measured to evaluate sensitivity to drug-induced apoptosis. RESULTS: WT1 expression was down-regulated in secretory-phase ovPCOS endometrium. Stromal expression of Bcl-2 and p27 was higher, and epidermal growth factor receptor was lower in ovPCOS than in fertile patients. Endometrial stromal expression of WT1, Bcl-2, Bcl-2-associated X protein, and beta-catenin was regulated by androgens. Apoptosis levels were reduced in ovPCOS samples and androgen-treated fertile samples. CONCLUSION: WT1 expression is down-regulated in ovPCOS endometrium during the window of implantation. Androgens regulate the expression of WT1 and its targets during endometrial decidualization. The altered balance between WT1 and AR in the endometrium of PCOS patients may jeopardize the success of decidualization and endometrial receptivity. |
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National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
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