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UGT1A9 UDP glucuronosyltransferase family 1 member A9 [ Homo sapiens (human) ]

Gene ID: 54600, updated on 11-Jun-2021

Summary

Official Symbol
UGT1A9provided by HGNC
Official Full Name
UDP glucuronosyltransferase family 1 member A9provided by HGNC
Primary source
HGNC:HGNC:12541
See related
Ensembl:ENSG00000241119 MIM:606434
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
LUGP4; UDPGT; UGT1I; HLUGP4; UGT-1I; UGT1-9; UGT1.9; UGT1AI; UGT1-09; UGT1A9S; UDPGT 1-9
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 phenols. [provided by RefSeq, Jul 2008]
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Genomic context

See UGT1A9 in Genome Data Viewer
Location:
2q37.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (233671898..233773300)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (234580544..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 UDP glucuronosyltransferase family 1 member A7 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 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 Holliday junction recognition protein

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide assessment of variability in human serum metabolism.
GeneReviews: Not available
A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.
GeneReviews: Not available
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.
GeneReviews: Not available
A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia.
GeneReviews: Not available
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Association of SNPs in the UGT1A gene cluster with total bilirubin and mortality in the Diabetes Heart Study.
GeneReviews: Not available
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.
GeneReviews: Not available
Genetic determinants influencing human serum metabolome among African Americans.
GeneReviews: Not available
Genome-wide analysis of hepatic lipid content in extreme obesity.
GeneReviews: Not available
Genome-wide association meta-analysis for total serum bilirubin levels.
GeneReviews: Not available
Genome-wide association of serum bilirubin levels in Korean population.
GeneReviews: Not available
Human metabolic individuality in biomedical and pharmaceutical research.
GeneReviews: Not available
Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels.
GeneReviews: Not available
UGT1A1 is a major locus influencing bilirubin levels in African Americans.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables glucuronosyltransferase activity IDA
Inferred from Direct Assay
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 
Component Evidence Code Pubs
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 integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
UDP-glucuronosyltransferase 1A9
Names
UDP glucuronosyltransferase 1 family, polypeptide A9
UDP glycosyltransferase 1 family, polypeptide A9
UDP-glucuronosyltransferase 1 family polypeptide A9s
UDP-glucuronosyltransferase 1-9
UDP-glucuronosyltransferase 1-I
NP_066307.1

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
    87155..188562
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021027.3NP_066307.1  UDP-glucuronosyltransferase 1A9 precursor

    See identical proteins and their annotated locations for NP_066307.1

    Status: REVIEWED

    Source sequence(s)
    AY435144, BC043491, BC058844, S55985
    Consensus CDS
    CCDS2505.1
    UniProtKB/Swiss-Prot
    O60656
    UniProtKB/TrEMBL
    Q5DSZ5
    Related
    ENSP00000346768.4, ENST00000354728.5
    Conserved Domains (1) summary
    pfam00201
    Location:26521
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    233671898..233773300
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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