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

    Gene ID: 54578, updated on 3-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (233691702..233773300)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (234180351..234261929)
    RS_2024_09 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 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. The N-terminal of human UGT1A6 is on the outside, as evidenced by ELISA with autoantibody in autoimmune hepatitis sera. Mori H, et al. Drug Metab Lett, 2007 Dec. PMID 19356052
    2. 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
    3. Role of the carboxyl terminal stop transfer sequence of UGT1A6 membrane protein in ER targeting and translocation of upstream lumenal domain. Ouzzine M, et al. FEBS Lett, 2006 Apr 3. PMID 16529747
    4. Interactions with other human UDP-glucuronosyltransferases attenuate the consequences of the Y485D mutation on the activity and substrate affinity of UGT1A6. Kurkela M, et al. Pharmacogenet Genomics, 2007 Feb. PMID 17301691
    5. UGT1A6 polymorphism and salicylic acid glucuronidation following aspirin. Chen Y, et al. Pharmacogenet Genomics, 2007 Aug. PMID 17622933

    See all (130) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular biology of glucose-6-phosphate dehydrogenase and UDP-glucuronosyltransferase 1A1 in the development of neonatal unconjugated hyperbilirubinemia.
      Title: Molecular biology of glucose-6-phosphate dehydrogenase and UDP-glucuronosyltransferase 1A1 in the development of neonatal unconjugated hyperbilirubinemia.
    2. Association of UGT1A6 gene polymorphisms with sodium valproate-induced tremor in patients with epilepsy.
      Title: Association of UGT1A6 gene polymorphisms with sodium valproate-induced tremor in patients with epilepsy.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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
.
    Submit: New GeneRIF Correction See all GeneRIFs (71)

    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 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 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 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in cellular glucuronidation TAS
    Traceable Author Statement
    more info
    		  
    involved_in negative regulation of cellular glucuronidation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in negative regulation of fatty acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in xenobiotic metabolic process IDA
    Inferred from Direct Assay
    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
    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 
    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 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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    NEW Try the new Transcript table

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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