Version 2.78

Description

The UGT1A1 gene (UDP glucuronosyltransferase 1 family, polypeptide A1) [HGNC Gene ID:12530] is located on chromosome 2q37. 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] [NCBI Gene ID:54658] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Display Name
UGT1A1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2003-08-08
Construct for LOINC Short Name
UGT1A1 gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP31870-6
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP31870-6

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) UGT1A1 基因
Synonyms: Crigler-Najjar 综合征, I 型;Gilbert 综合征;Gilbert 综合征（一种遗传性结合型胆红素水平升高造成胆红素排泄障碍,而肝脏功能正常的综合征,是人类最为常见的综合征类型之一）;GNT1;UDP 糖基转移酶 1 家族, 多肽 A1 基因;UDP 转糖基酶 1 家族, 多肽 A1 基因;UGT1;UGT1A;UGT1A5;二磷酸尿苷糖基转移酶 1 家族, 多肽 A1 基因;二磷酸尿苷转糖基酶 1 家族, 多肽 A1 基因;尿苷二磷酸糖基转移酶 1 家族, 多肽 A1 基因;尿苷二磷
et-EE Estonian (Estonia) UGT1A1 geen
es-ES Spanish (Spain) Gen UGT1A1
it-IT Italian (Italy) UGT1A1, gene
Synonyms: Gene UGT1A1
tr-TR Turkish (Turkey) UGT1A1 geni
ru-RU Russian (Russian Federation) UGT1A1 ген
nl-NL Dutch (Netherlands) UGT1A1-gen
Synonyms: UGT1A1 gen