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UGT1A6 UDP glucuronosyltransferase family 1 member A6 [ Homo sapiens (human) ]

Gene ID: 54578, updated on 5-Mar-2024

Summary

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Official Symbol
UGT1A6provided by HGNC
Official Full Name
UDP glucuronosyltransferase family 1 member A6provided by HGNC
Primary source
HGNC:HGNC:12538
See related
Ensembl:ENSG00000167165 MIM:606431; AllianceGenome:HGNC:12538
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; HLUGP; UDPGT; UGT1A; UGT1C; UGT1E; UGT1F; HLUGP1; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1.1; UGT1.3; UGT1.5; UGT1.6; UGT1A1; UGT1A3; UGT1A5; UGT1-01; UGT1-03; UGT1-05; UGT1-06; UGT1A6S; hUG-BR1; UDPGT 1-6
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. [provided by RefSeq, Jul 2008]
Orthologs
all
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Genomic context

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See UGT1A6 in Genome Data Viewer
Location:
2q37.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (233691702..233773300)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (234180351..234261929)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (234600348..234681946)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene UDP glucuronosyltransferase family 1 member A complex locus Neighboring gene UDP glucuronosyltransferase family 1 member A11, pseudogene Neighboring gene UDP glucuronosyltransferase family 1 member A8 Neighboring gene UDP glucuronosyltransferase family 1 member A10 Neighboring gene UDP glucuronosyltransferase family 1 member A13, pseudogene Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:234599674-234600281 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:234600282-234600888 Neighboring gene UDP glucuronosyltransferase family 1 member A9 Neighboring gene UDP glucuronosyltransferase family 1 member A7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234621256-234621756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234621757-234622257 Neighboring gene UDP glucuronosyltransferase family 1 member A5 Neighboring gene ribosomal protein L17 pseudogene 11 Neighboring gene UDP glucuronosyltransferase family 1 member A4 Neighboring gene UDP glucuronosyltransferase family 1 member A3 Neighboring gene DnaJ heat shock protein family (Hsp40) member B3 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr2:234668353-234668527 Neighboring gene DnaJ heat shock protein family (Hsp40) member B3 Neighboring gene UDP glucuronosyltransferase family 1 member A2, pseudogene Neighboring gene UDP glucuronosyltransferase family 1 member A1 Neighboring gene maestro heat like repeat family member 2A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234731477-234731977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234759038-234759538 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:234763063-234764055 Neighboring gene Holliday junction recognition protein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. A meta-analysis of the influence of UGT1A6 genetic polymorphisms on valproic acid pharmacokinetics
. Kim SC, et al. Int J Clin Pharmacol Ther, 2019 Mar. PMID 30686291
  2. Effects of Phenobarbital on Expression of UDP-Glucuronosyltransferase 1a6 and 1a7 in Rat Brain. Sakakibara Y, et al. Drug Metab Dispos, 2016 Mar. PMID 26684499
  3. Three most common nonsynonymous UGT1A6*2 polymorphisms (Thr181Ala, Arg184Ser and Ser7Ala) and therapeutic response to deferiprone in β-thalassemia major patients. Dadheech S, et al. Gene, 2013 Dec 1. PMID 24036429
  4. UGT1A6 polymorphisms modulated lung cancer risk in a Chinese population. Kua LF, et al. PLoS One, 2012. PMID 22912755, Free PMC Article
  5. Mapping of the UGT1A locus identifies an uncommon coding variant that affects mRNA expression and protects from bladder cancer. Tang W, et al. Hum Mol Genet, 2012 Apr 15. PMID 22228101, Free PMC Article

See all (125) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Role of RARG rs2229774, SLC28A3 rs7853758, and UGT1A6*4 rs17863783 Single-nucleotide Polymorphisms in the Doxorubicin-induced Cardiotoxicity in Solid Childhood Tumors.
    Title: The Role of RARG rs2229774, SLC28A3 rs7853758, and UGT1A6*4 rs17863783 Single-nucleotide Polymorphisms in the Doxorubicin-induced Cardiotoxicity in Solid Childhood Tumors.
  2. Distribution pattern of UGT1A6 and UGT2B7 gene polymorphism and its impact on the pharmacokinetics of valproic acid and carbamazepine: Prospective genetic association study conducted in Pakistani patients with epilepsy.
    Title: Distribution pattern of UGT1A6 and UGT2B7 gene polymorphism and its impact on the pharmacokinetics of valproic acid and carbamazepine: Prospective genetic association study conducted in Pakistani patients with epilepsy.
  3. Significance of UGT1A6, UGT1A9, and UGT2B7 genetic variants and their mRNA expression in the clinical outcome of renal cell carcinoma.
    Title: Significance of UGT1A6, UGT1A9, and UGT2B7 genetic variants and their mRNA expression in the clinical outcome of renal cell carcinoma.
  4. Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on plasma concentration of valproic acid in Chinese epilepsy patients.
    Title: Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on plasma concentration of valproic acid in Chinese epilepsy patients.
  5. Impact of MDR1 and UGT Gene Polymorphisms on Sodium Valproate Plasma Concentration in Patients with Epilepsy.
    Title: Impact of MDR1 and UGT Gene Polymorphisms on Sodium Valproate Plasma Concentration in Patients with Epilepsy.
  6. UGT1A6 and UGT2B7 Gene Polymorphism and its Effect in Pediatric Epileptic Patients on Sodium Valproate Monotherapy.
    Title: UGT1A6 and UGT2B7 Gene Polymorphism and its Effect in Pediatric Epileptic Patients on Sodium Valproate Monotherapy.
  7. Influence of UGT2B7 and UGT1A6 polymorphisms on plasma concentration to dose ratio of valproic acid in Chinese epileptic children.
    Title: Influence of UGT2B7 and UGT1A6 polymorphisms on plasma concentration to dose ratio of valproic acid in Chinese epileptic children.
  8. concentration-to-dose ratio for valproic acid monotherapy were significantly lower for UGT1A6 homozygous variants 541A>G and 552A>C than for the wild type
    Title: A meta-analysis of the influence of UGT1A6 genetic polymorphisms on valproic acid pharmacokinetics
.
  9. high activityUGT1A6 genotype is associated with an increased risk for Warthin's tumor
    Title: Genetic polymorphisms in UDP-glucuronosyltransferase 1A6 and 1A7 and the risk for benign Warthin's tumors of the parotid gland.
  10. Rs28898617 (UGT1A6, A > G) variation was associated with an increase in NCVPA.
    Title: Effects of UGT1A6 and GABRA1 on Standardized Valproic Acid Plasma Concentrations and Treatment Effect in Children With Epilepsy in China.
Submit: New GeneRIF Correction See all GeneRIFs (69)

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

EBI GWAS Catalog

Description
A genome-wide assessment of variability in human serum metabolism.
EBI GWAS Catalog
A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.
EBI GWAS Catalog
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
A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia.
EBI GWAS Catalog
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Association of SNPs in the UGT1A gene cluster with total bilirubin and mortality in the Diabetes Heart Study.
EBI GWAS Catalog
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Genetic determinants influencing human serum metabolome among African Americans.
EBI GWAS Catalog
Genome-wide analysis of hepatic lipid content in extreme obesity.
EBI GWAS Catalog
Genome-wide association meta-analysis for total serum bilirubin levels.
EBI GWAS Catalog
Genome-wide association of serum bilirubin levels in Korean population.
EBI GWAS Catalog
Human metabolic individuality in biomedical and pharmaceutical research.
EBI GWAS Catalog
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
UGT1A1 is a major locus influencing bilirubin levels in African Americans.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC29860

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 glucuronosyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glucuronosyltransferase activity TAS
Traceable Author Statement
more info
  
enables protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
  
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
NOT enables retinoic acid binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
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 TAS
Traceable Author Statement
more info
  
involved_in xenobiotic metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in xenobiotic metabolic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
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 membrane TAS
Traceable Author Statement
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
UDP-glucuronosyltransferase 1-6
Names
Bilirubin-specific UDPGT isozyme 1
UDP glucuronosyltransferase 1 family, polypeptide A6
UDP glycosyltransferase 1 family, polypeptide A6
UDP-glucuronosyltransferase 1 family polypeptide A6s
UDP-glucuronosyltransferase 1-1
UDP-glucuronosyltransferase 1-3
UDP-glucuronosyltransferase 1-5
UDP-glucuronosyltransferase 1-A
UDP-glucuronosyltransferase 1-C
UDP-glucuronosyltransferase 1-E
UDP-glucuronosyltransferase 1-F
UDP-glucuronosyltransferase 1A1
UDP-glucuronosyltransferase 1A3
UDP-glucuronosyltransferase 1A5
UDP-glucuronosyltransferase 1A6
phenol-metabolizing UDP-glucuronosyltransferase
NP_001063.2
NP_995584.1

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.

Genomic

  1. NG_002601.2 RefSeqGene

    Range
    106932..188562
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001072.4 → NP_001063.2  UDP-glucuronosyltransferase 1-6 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001063.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Its first exon contains both the 5' UTR and the 5' coding sequence, as is typical of the UGT1A genes.
    Source sequence(s)
    AY435141, BE463503, DB014621
    Consensus CDS
    CCDS2507.1
    UniProtKB/Swiss-Prot
    A6NKK6, B8K289, P19224, Q96TE7
    UniProtKB/TrEMBL
    Q5DSZ8, Q8WUQ4
    Related
    ENSP00000303174.6, ENST00000305139.11
    Conserved Domains (2) summary
    PHA03392
    Location:15 → 506
    egt; ecdysteroid UDP-glucosyltransferase; Provisional
    pfam00201
    Location:27 → 523
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

  2. NM_205862.3 → NP_995584.1  UDP-glucuronosyltransferase 1-6 isoform 2

    See identical proteins and their annotated locations for NP_995584.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate exon and uses an alternate splice site in the unique 5' end, compared to variant 1. Variant 2 differs from the typical structure of a UGT1A transcript in that its first exon is entirely UTR while the coding sequence begins in the second exon. Variant 2 uses a downstream in-frame start codon compared to variant 1, resulting in isoform 2 which has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AC006985, AC114812
    Consensus CDS
    CCDS2508.1
    UniProtKB/TrEMBL
    Q5DT01
    Related
    ENSP00000362523.1, ENST00000373424.5
    Conserved Domains (2) summary
    PHA03392
    Location:2 → 239
    egt; ecdysteroid UDP-glucosyltransferase; Provisional
    pfam00201
    Location:1 → 256
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    233691702..233773300
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    234180351..234261929
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P19224.2 GenPept UniProtKB/Swiss-Prot:P19224

Gene LinkOut

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