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UGT1A7 UDP glucuronosyltransferase family 1 member A7 [ Homo sapiens (human) ]

Gene ID: 54577, updated on 14-Nov-2024

Summary

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Official Symbol
UGT1A7provided by HGNC
Official Full Name
UDP glucuronosyltransferase family 1 member A7provided by HGNC
Primary source
HGNC:HGNC:12539
See related
Ensembl:ENSG00000244122 MIM:606432; AllianceGenome:HGNC:12539
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; UGT1G; UGT-1A; UGT-1G; UGT1.1; UGT1.7; UGT1A1; UGT1-01; UGT1-07; hUG-BR1; UDPGT 1-7
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 has moderate glucuronidase activity with phenols. [provided by RefSeq, Jul 2008]
Orthologs
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Genomic context

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See UGT1A7 in Genome Data Viewer
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 (233681901..233773300)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (234170550..234261929)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (234590547..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 H3K4me1 hESC enhancer GRCh37_chr2:234621256-234621756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234621757-234622257 Neighboring gene UDP glucuronosyltransferase family 1 member A6 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. [Association between genetic polymorphism of UGT1A7 and susceptibility of bladder cancer]. Liu J, et al. Zhonghua Yi Xue Za Zhi, 2009 Dec 1. PMID 20193274
  2. Polymorphisms of uridine-diphosphoglucuronosyltransferase 1A7 gene in Taiwan Chinese. Huang MJ, et al. World J Gastroenterol, 2005 Feb 14. PMID 15682470, Free PMC Article
  3. The association between UGT1A7 polymorphism and cancer risk: a meta-analysis. Han SX, et al. Cancer Epidemiol, 2012 Aug. PMID 22402308
  4. Genetic polymorphisms of UGT1A7 and cancer risk: evidence from 21 case-control studies. Lu PH, et al. Cancer Invest, 2011 Dec. PMID 22085268
  5. Joint effects between UDP-glucuronosyltransferase 1A7 genotype and dietary carcinogen exposure on risk of colon cancer. Butler LM, et al. Cancer Epidemiol Biomarkers Prev, 2005 Jul. PMID 16030093

See all (108) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. [Gene mutation pattern of Gilbert's syndrome combined with viral hepatitis and its relationship with the exploration of clinical data].
    Title: [Gene mutation pattern of Gilbert's syndrome combined with viral hepatitis and its relationship with the exploration of clinical data].
  2. We found that Circassians and Chechens have significantly higher allele frequencies of UGT1A7*2, UGT1A7*3 and UGT1A7*4 than the Jordanian-Arab population, but all three populations have similar frequencies of UGT1A1*28. Therefore, Circassians and Chechens are expected to have significantly lower levels of the UGT1A7 enzyme with almost 90% of these populations having genes that encode low or intermediate enzyme activity.
    Title: Interethnic Variations of UGT1A1 and UGT1A7 Polymorphisms in the Jordanian Population.
  3. high activity UGT1A7 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.
  4. Increased UGT1A7 expression is associated with pancreatic cancer.
    Title: Increased UGT1A3 and UGT1A7 expression is associated with pancreatic cancer.
  5. The rate of Results show that UGT1A7*12 allele frequency was not significantly different between the Uzbek and Japanese populations.
    Title: Differences in UGT1A1, UGT1A7, and UGT1A9 polymorphisms between Uzbek and Japanese populations.
  6. The presence of UGT1A1*28, UGT1A7*3, UGT1A9*22 genotypes decreases SN-38 clearance between 20 and 36%
    Title: [Influence of genetic polymorphisms in UGT1A1, UGT1A7 and UGT1A9 on the pharmacokynetics of irinotecan, SN-38 and SN-38G].
  7. Results suggest that CYP3A4 changes the catalytic function of the UGT1A subfamily in a UGT isoform-specific manner.
    Title: Alteration of the function of the UDP-glucuronosyltransferase 1A subfamily by cytochrome P450 3A4: different susceptibility for UGT isoforms and UGT1A1/7 variants.
  8. Polymorphism in UDP-glucuronosyltransferase 1A7 is associated with colorectal cancer.
    Title: Association between polymorphisms in UDP-glucuronosyltransferase 1A6 and 1A7 and colorectal cancer risk.
  9. the UGT1A7*3 allele is a risk factor for cancer among Asians, especially for hepatocellular carcinoma (Meta-Analysis)
    Title: The association between UGT1A7 polymorphism and cancer risk: a meta-analysis.
  10. there is a cancer risk associated with UGT1A7*3, Intermediate, and Low activity UGT1A7 genotypes, which is most evident in Asian individuals.
    Title: Genetic polymorphisms of UGT1A7 and cancer risk: evidence from 21 case-control studies.
Submit: New GeneRIF Correction See all GeneRIFs (50)

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 Variation Viewer (GRCh37.p13)

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

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 IGI
Inferred from Genetic Interaction
more info
 PubMed 
enables glucuronosyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
NOT enables glucuronosyltransferase activity IGI
Inferred from Genetic 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 protein kinase C binding IDA
Inferred from Direct Assay
more info
 PubMed 
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 coumarin metabolic process IC
Inferred by Curator
more info
 PubMed 
involved_in estrogen metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fatty acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in flavone metabolic process IC
Inferred by Curator
more info
 PubMed 
involved_in flavonoid glucuronidation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in liver development IBA
Inferred from Biological aspect of Ancestor
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 IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in retinoic acid metabolic process IC
Inferred by Curator
more info
 PubMed 
involved_in toxin catabolic process IDA
Inferred from Direct Assay
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 IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in xenobiotic metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
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 
located_in endoplasmic reticulum membrane 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 

General protein information

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Preferred Names
UDP-glucuronosyltransferase 1A7
Names
Bilirubin-specific UDPGT isozyme 1
UDP glucuronosyltransferase 1 family, polypeptide A7
UDP glycosyltransferase 1 family, polypeptide A7
UDP-glucuronosyltransferase 1 family polypeptide A7s
UDP-glucuronosyltransferase 1-1
UDP-glucuronosyltransferase 1-7
UDP-glucuronosyltransferase 1-A
UDP-glucuronosyltransferase 1-G
UDP-glucuronosyltransferase 1A1
NP_061950.2

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
    97195..188556
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_019077.3 → NP_061950.2  UDP-glucuronosyltransferase 1A7 precursor

    See identical proteins and their annotated locations for NP_061950.2

    Status: REVIEWED

    Source sequence(s)
    AC006985, AC114812
    Consensus CDS
    CCDS2506.1
    UniProtKB/Swiss-Prot
    B8K293, O00473, Q9HAW7
    UniProtKB/TrEMBL
    Q5DSZ7
    Related
    ENSP00000362525.3, ENST00000373426.4
    Conserved Domains (2) summary
    PHA03392
    Location:264 → 504
    egt; ecdysteroid UDP-glucosyltransferase; Provisional
    pfam00201
    Location:26 → 521
    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
    233681901..233773300
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    234170550..234261929
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HAW7.2 GenPept UniProtKB/Swiss-Prot:Q9HAW7

Gene LinkOut

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

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