UGT1A1 UDP glucuronosyltransferase family 1 member A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UGT1A1provided by HGNC
Official Full Name: UDP glucuronosyltransferase family 1 member A1provided by HGNC
Primary source: HGNC:HGNC:12530
See related: Ensembl:ENSG00000241635 MIM:191740; AllianceGenome:HGNC:12530
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GNT1; UGT1; UDPGT; UGT1A; HUG-BR1; BILIQTL1; UDPGT 1-1
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]
Orthologs: all
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Genomic context

Location:: 2q37.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (233760270..233773300)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (234248901..234261929)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (234668916..234681946)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

UGT1A1 and BLVRA allele and genotype variants in neonatal patients with hyperbilirubinemia in southern China.
Title: UGT1A1 and BLVRA allele and genotype variants in neonatal patients with hyperbilirubinemia in southern China.
Polycyclic aromatic hydrocarbon and its adducts in peripheral blood: Gene and environment interaction among Chinese population.
Title: Polycyclic aromatic hydrocarbon and its adducts in peripheral blood: Gene and environment interaction among Chinese population.
Analysis of UGT1A1 genotype-phenotype correlation in Chinese patients with gilbert and crigler-Najjar II syndrome.
Title: Analysis of UGT1A1 genotype-phenotype correlation in Chinese patients with gilbert and crigler-Najjar II syndrome.
The Evaluation of the Genetic Variation Types of the Uridine Diphosphate Glucuronosyl Transferase 1A1 Gene by Next-Generation Sequencing and Their Effects on Bilirubin Levels in Obese Children.
Title: The Evaluation of the Genetic Variation Types of the Uridine Diphosphate Glucuronosyl Transferase 1A1 Gene by Next-Generation Sequencing and Their Effects on Bilirubin Levels in Obese Children.
Activation of Cryptic Donor Splice Sites within the UDP-Glucuronosyltransferase (UGT)1A First-Exon Region Generates Variant Transcripts That Encode UGT1A Proteins with Truncated Aglycone-Binding Domains.
Title: Activation of Cryptic Donor Splice Sites within the UDP-Glucuronosyltransferase (UGT)1A First-Exon Region Generates Variant Transcripts That Encode UGT1A Proteins with Truncated Aglycone-Binding Domains.
[Correlation between the mutation spectrum of the UGT1A1 gene and clinical phenotype in patients with inherited hyperunconjugated bilirubinemia].
Title: [Correlation between the mutation spectrum of the UGT1A1 gene and clinical phenotype in patients with inherited hyperunconjugated bilirubinemia].
Uridine diphosphate glucuronosyltransferase 1A1 prevents the progression of liver injury.
Title: Uridine diphosphate glucuronosyltransferase 1A1 prevents the progression of liver injury.
[UGT1A1 gene mutation spectrum with indirect hyperbilirubinemia in children].
Title: [UGT1A1 gene mutation spectrum with indirect hyperbilirubinemia in children].
Associations between UGT1A1, SLCO1B1, SLCO1B3, BLVRA and HMOX1 polymorphisms and susceptibility to neonatal severe hyperbilirubinemia in Chinese Han population.
Title: Associations between UGT1A1, SLCO1B1, SLCO1B3, BLVRA and HMOX1 polymorphisms and susceptibility to neonatal severe hyperbilirubinemia in Chinese Han population.
New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.
Title: New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (531)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Atazanavir response MedGen: CN417141 GeneReviews: Not available	Compare labs
Belinostat response MedGen: CN282543 GeneReviews: Not available	Compare labs
Bilirubin, serum level of, quantitative trait locus 1 MedGen: C1866173 OMIM: 601816 GeneReviews: Not available	Compare labs
Crigler-Najjar syndrome type 1 MedGen: C0010324 OMIM: 218800 GeneReviews: Not available	Compare labs
Crigler-Najjar syndrome, type II MedGen: C2931132 OMIM: 606785 GeneReviews: Not available	Compare labs
Gilbert syndrome MedGen: C0017551 OMIM: 143500 GeneReviews: Not available	Compare labs
Irinotecan response MedGen: CN077989 GeneReviews: Not available	Compare labs
Lucey-Driscoll syndrome MedGen: C0270210 OMIM: 237900 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide assessment of variability in human serum metabolism. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study identifies UGT1A1 as a regulator of serum cell-free DNA in young adults: The Cardiovascular Risk in Young Finns Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Association of SNPs in the UGT1A gene cluster with total bilirubin and mortality in the Diabetes Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic determinants influencing human serum metabolome among African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide analysis of hepatic lipid content in extreme obesity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association meta-analysis for total serum bilirubin levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association of serum bilirubin levels in Korean population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Human metabolic individuality in biomedical and pharmaceutical research. EBI GWAS Catalog EBI GWAS CatalogPubMed
Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
UGT1A1 is a major locus influencing bilirubin levels in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD05663 (e-PCR)
- UniSTS:286726

WI-12095 (e-PCR)
- UniSTS:16914

ECD03385 (e-PCR)
- UniSTS:284470

ECD13431 (e-PCR)
- UniSTS:294461

GDB:511416 (e-PCR)
- UniSTS:157508

REN45958 (e-PCR)
- UniSTS:370758

REN45959 (e-PCR)
- UniSTS:370759

REN45960 (e-PCR)
- UniSTS:370760

REN45961 (e-PCR)
- UniSTS:370761

REN45962 (e-PCR)
- UniSTS:370762

ECD10107 (e-PCR)
- UniSTS:291147

REN45963 (e-PCR)
- UniSTS:370763

REN45964 (e-PCR)
- UniSTS:370764

REN45965 (e-PCR)
- UniSTS:370765

REN45966 (e-PCR)
- UniSTS:370766

REN45967 (e-PCR)
- UniSTS:370767

ECD18333 (e-PCR)
- UniSTS:299344

REN45968 (e-PCR)
- UniSTS:370768

REN45969 (e-PCR)
- UniSTS:370769

REN45970 (e-PCR)
- UniSTS:370770

REN45971 (e-PCR)
- UniSTS:370771

REN45972 (e-PCR)
- UniSTS:370772

REN45973 (e-PCR)
- UniSTS:370773

REN45974 (e-PCR)
- UniSTS:370774

REN45975 (e-PCR)
- UniSTS:370775

REN45976 (e-PCR)
- UniSTS:370776

REN45977 (e-PCR)
- UniSTS:370777

REN45978 (e-PCR)
- UniSTS:370778

REN45979 (e-PCR)
- UniSTS:370779

REN45980 (e-PCR)
- UniSTS:370780

REN45981 (e-PCR)
- UniSTS:370781

REN45982 (e-PCR)
- UniSTS:370782

REN45983 (e-PCR)
- UniSTS:370783

REN45984 (e-PCR)
- UniSTS:370784

REN45985 (e-PCR)
- UniSTS:370785

RH68970 (e-PCR)
- UniSTS:69731

REN45987 (e-PCR)
- UniSTS:370787

REN45988 (e-PCR)
- UniSTS:370788

REN45989 (e-PCR)
- UniSTS:370789

REN45990 (e-PCR)
- UniSTS:370790

REN45991 (e-PCR)
- UniSTS:370791

REN45992 (e-PCR)
- UniSTS:370792

REN45993 (e-PCR)
- UniSTS:370793

REN45994 (e-PCR)
- UniSTS:370794

REN45995 (e-PCR)
- UniSTS:370795

REN45996 (e-PCR)
- UniSTS:370796

ECD09369 (e-PCR)
- UniSTS:290413

REN45997 (e-PCR)
- UniSTS:370797

REN45998 (e-PCR)
- UniSTS:370798

REN45999 (e-PCR)
- UniSTS:370799

REN46000 (e-PCR)
- UniSTS:370800

REN46001 (e-PCR)
- UniSTS:370801

REN46002 (e-PCR)
- UniSTS:370802

REN46003 (e-PCR)
- UniSTS:370803

REN46004 (e-PCR)
- UniSTS:370804

ECD23517 (e-PCR)
- UniSTS:304501

REN46005 (e-PCR)
- UniSTS:370805

REN46006 (e-PCR)
- UniSTS:370806

REN46007 (e-PCR)
- UniSTS:370807

REN46008 (e-PCR)
- UniSTS:370808

REN46009 (e-PCR)
- UniSTS:370809

REN46010 (e-PCR)
- UniSTS:370810

REN46011 (e-PCR)
- UniSTS:370811

REN46012 (e-PCR)
- UniSTS:370812

REN46013 (e-PCR)
- UniSTS:370813

REN46014 (e-PCR)
- UniSTS:370814

REN46015 (e-PCR)
- UniSTS:370815

REN46016 (e-PCR)
- UniSTS:370816

REN46017 (e-PCR)
- UniSTS:370817

REN46018 (e-PCR)
- UniSTS:370818

ECD05537 (e-PCR)
- UniSTS:286601

ECD19171 (e-PCR)
- UniSTS:300178

RH48302 (e-PCR)
- UniSTS:73619

ECD23043 (e-PCR)
- UniSTS:304027

ECD09161 (e-PCR)
- UniSTS:290206

D2S2843 (e-PCR)
- UniSTS:47278

stSG620144 (e-PCR)
- UniSTS:454070

AFMa057vb1 (e-PCR)
- UniSTS:52424

ECD03538 (e-PCR)
- UniSTS:284620

ECD14611 (e-PCR)
- UniSTS:295631

ECD18210 (e-PCR)
- UniSTS:299221

ECD18237 (e-PCR)
- UniSTS:299248

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme binding	IBA Inferred from Biological aspect of Ancestor more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables enzyme inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables enzyme inhibitor activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables glucuronosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
NOT enables glucuronosyltransferase activity	IKR Inferred from Key Residues more info	PubMed
enables glucuronosyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables glucuronosyltransferase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables retinoic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables steroid binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in acute-phase response	IEA Inferred from Electronic Annotation more info
involved_in animal organ regeneration	IEA Inferred from Electronic Annotation more info
involved_in bilirubin conjugation	TAS Traceable Author Statement more info
involved_in biphenyl catabolic process	IEA Inferred from Electronic Annotation more info
involved_in cellular glucuronidation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular glucuronidation	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular glucuronidation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cellular glucuronidation	TAS Traceable Author Statement more info
involved_in cellular response to estradiol stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glucocorticoid stimulus	IEA Inferred from Electronic Annotation more info
involved_in estrogen metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in flavone metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in flavonoid glucuronidation	IDA Inferred from Direct Assay more info	PubMed
involved_in liver development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cellular glucuronidation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of fatty acid metabolic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of steroid metabolic process	IC Inferred by Curator more info	PubMed
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info
involved_in response to starvation	IEA Inferred from Electronic Annotation more info
involved_in retinoic acid metabolic process	IC Inferred by Curator more info	PubMed
involved_in steroid metabolic process	IC Inferred by Curator more info	PubMed
involved_in xenobiotic glucuronidation	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic metabolic process	IC Inferred by Curator more info	PubMed
NOT involved_in xenobiotic metabolic process	IKR Inferred from Key Residues more info	PubMed
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
part_of cytochrome complex	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	NAS Non-traceable Author Statement more info	PubMed
part_of endoplasmic reticulum chaperone complex	IEA Inferred from Electronic Annotation more info
NOT located_in endoplasmic reticulum membrane	IKR Inferred from Key Residues more info	PubMed
located_in endoplasmic reticulum membrane	NAS Non-traceable Author Statement more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: UDP-glucuronosyltransferase 1A1

Names: UDP glucuronosyltransferase 1 family, polypeptide A1; UDP glycosyltransferase 1 family, polypeptide A1; UDP-glucuronosyltransferase 1-A; UDP-glucuronosyltransferase 1A; 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

NP_000454.1

EC 2.4.1.17

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.