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UGT1A8 Gene

protein-coding   GIFtS: 52
GCID: GC02P234526

UDP Glucuronosyltransferase 1 Family, Polypeptide A8

(Previous names: UDP glycosyltransferase 1 family, polypeptide A8)
  See UGT1A8-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
UDP Glucuronosyltransferase 1 Family, Polypeptide A81 2     EC 2.4.1.173 8
UDP Glycosyltransferase 1 Family, Polypeptide A81 2     UDPGT2
UGT-1H2 3     UGT1A8S2
UGT1-082 3     UDP-Glucuronosyltransferase 1 Family Polypeptide A8s2
UGT1.82 3     UDP-Glucuronosyltransferase 1-82
UGT1H2 3     GNT13
UDP-Glucuronosyltransferase 1-H2 3     UGT13
UDP-Glucuronosyltransferase 1A82 3     UGT1*83
UDPGT 1-82 3     

External Ids:    HGNC: 125401   Entrez Gene: 545762   Ensembl: ENSG000002416357   OMIM: 6064335   UniProtKB: Q9HAW93   

Export aliases for UGT1A8 gene to outside databases

Previous GC identifers: GC02P232535 GC02U900011 GC02P234821 GC02P234884 GC02P234308 GC02P234199 GC02P234207 GC02P234213 GC02P234219 GC02P234225 GC02P234227 GC02P226326


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for UGT1A8 Gene:
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 glucuronidase
activity with many substrates including coumarins, phenols, anthraquinones, flavones, and some opioids. (provided
by RefSeq, Jul 2008)

GeneCards Summary for UGT1A8 Gene:
UGT1A8 (UDP glucuronosyltransferase 1 family, polypeptide A8) is a protein-coding gene. Diseases associated with UGT1A8 include kernicterus. GO annotations related to this gene include enzyme binding and protein homodimerization activity. An important paralog of this gene is UGT2A2.

UniProtKB/Swiss-Prot: UD18_HUMAN, Q9HAW9
Function: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic
xenobiotics and endogenous compounds

Gene Wiki entry for UGT1A8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the UGT1A8 gene promoter:
         SRF   PPAR-alpha   NF-AT4   PPAR-gamma1   NF-AT2   SRF (504 AA)   NF-AT3   PPAR-gamma2   LCR-F1   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 7): UGT1A8 promoter sequence
   Search Chromatin IP Primers for UGT1A8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UGT1A8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37   Ensembl cytogenetic band:  2q37.1   HGNC cytogenetic band: 2q37

UGT1A8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UGT1A8 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P234526:  view genomic region     (about GC identifiers)

Start:
234,526,291 bp from pter      End:
234,681,956 bp from pter
Size:
155,666 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: UD18_HUMAN, Q9HAW9 (See protein sequence)
Recommended Name: UDP-glucuronosyltransferase 1-8 precursor  
Size: 530 amino acids; 59742 Da
Secondary accessions: B2R8S3 O14928 Q8TEX4 Q8WTQ9 Q8WX85
Alternative splicing: 1 isoform:  Q9HAW9-1   

Explore the universe of human proteins at neXtProt for UGT1A8: NX_Q9HAW9

Explore proteomics data for UGT1A8 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn71, Asn292, Asn344
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for UGT1A8 (Q9HAW9) (see all 24)
     PEVSWQL  FWVEFVM  WLLRTDF  QYHSLDV 


    See UGT1A8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_061949.3  
    ENSEMBL proteins: 
     ENSP00000362549   ENSP00000476286   ENSP00000477394   ENSP00000476805   ENSP00000476741  
     ENSP00000353593  
    Reactome Protein details: Q9HAW9

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    UGT: UDP glucuronosyltransferases

    1 InterPro protein domain:
     IPR002213 UDP_glucos_trans

    Graphical View of Domain Structure for InterPro Entry Q9HAW9

    ProtoNet protein and cluster: Q9HAW9

    1 Blocks protein domain: IPB002213 UDP-glucoronosyl/UDP-glucosyl transferase

    UniProtKB/Swiss-Prot: UD18_HUMAN, Q9HAW9
    Similarity: Belongs to the UDP-glycosyltransferase family


    Find genes that share domains with UGT1A8           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UD18_HUMAN, Q9HAW9
    Function: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic
    xenobiotics and endogenous compounds
    Catalytic activity: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside

         Enzyme Number (IUBMB): EC 2.4.1.171 2

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001972retinoic acid binding IC--
    GO:0004857enzyme inhibitor activity IDA19996319
    GO:0005496steroid binding IDA19996319
    GO:0005504fatty acid binding IDA19996319
    GO:0008144drug binding IC--
         
    Find genes that share ontologies with UGT1A8           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UGT1A8
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    hsa-miR-1260b hsa-miR-616* hsa-miR-371-5p hsa-miR-1260 hsa-miR-373*
    SwitchGear 3'UTR luciferase reporter plasmidUGT1A8 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat UGT1A8

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    UD18_HUMAN, Q9HAW9: Microsome. Endoplasmic reticulum membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol2
    golgi apparatus2
    nucleus2
    peroxisome2
    extracellular1
    lysosome1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005887integral component of plasma membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--
    GO:0070069cytochrome complex ----

    Find genes that share ontologies with UGT1A8           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for UGT1A8 About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1Biological oxidations
    Biological oxidations0.56
    Tamoxifen metabolism0.00
    Phase II conjugation0.56
    Tamoxifen Pathway, Pharmacokinetics0.00
    Glucuronidation0.00
    2Glucuronidation
    Glucuronidation0.61
    Starch and sucrose metabolism0.41
    Ascorbate and aldarate metabolism0.61
    Drug metabolism - other enzymes0.36
    Pentose and glucuronate interconversions0.61
    3Metabolism of porphyrins
    Metabolism of porphyrins0.56
    Heme degradation0.00
    Porphyrin and chlorophyll metabolism0.56
    4Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    5Chemical carcinogenesis
    Chemical carcinogenesis0.71
    Drug metabolism - cytochrome P4500.69
    Metabolism of xenobiotics by cytochrome P4500.71
    Retinol metabolism0.35


    Find genes that share SuperPaths with UGT1A8           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for UGT1A8
        Retinol metabolism
    2-Naphthylamine and 2-Nitronaphtalene metabolism

    3 BioSystems Pathways for UGT1A8
        Glucuronidation
    Tamoxifen metabolism
    thyroid hormone metabolism II (via conjugation and/or degradation)

    1 Reactome Pathway for UGT1A8
        Glucuronidation

    Selected PharmGKB Pathways for UGT1A8 (see all 6)
        Estrogen Metabolism Pathway
    Irinotecan Pathway, Pharmacodynamics
    Mycophenolic acid Pathway, Pharmacokinetics/Pharmacodynamics
    Tamoxifen Pathway, Pharmacokinetics
    Tramadol Pharmacokinetics

    Selected Kegg Pathways  (Kegg details for UGT1A8) (see all 11):
        Pentose and glucuronate interconversions
    Ascorbate and aldarate metabolism
    Steroid hormone biosynthesis
    Starch and sucrose metabolism
    Retinol metabolism

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UGT1A8
    Interactions:

        Search GeneGlobe Interaction Network for UGT1A8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for UGT1A8 (ENSP000003625494) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADH1BENSP000003066064STRING: ENSP00000306606
    ADH4ENSP000002655124STRING: ENSP00000265512
    ADH6ENSP000003783594STRING: ENSP00000378359
    AKR1C4ENSP000002631264STRING: ENSP00000263126
    BLVRAENSP000002655234STRING: ENSP00000265523
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 36):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001889liver development ----
    GO:0005975carbohydrate metabolic process ----
    GO:0006631fatty acid metabolic process IDA--
    GO:0006778porphyrin-containing compound metabolic process ----
    GO:0006789bilirubin conjugation ----

    Find genes that share ontologies with UGT1A8           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for UGT1A8 (UD18)

    Selected HMDB Compounds for UGT1A8 (see all 84)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Ethyl glucuronide 17685-04-016139098
    (23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)(23S)-23,25-dihydroxy-24-oxovitamin D3 23-(beta-glucuronide) (see all 5)----
    1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate)-beta-D-Glucopyranuronic acidIbuprofen acyl glucuronide;(2S,3S,4S,5R,6S)-3,4,5-trihydroxy-6-[2-[4-(2-methylpropyl)phenyl]propanoyloxy]oxane-2-carboxylic acid (see all 5)115075-59-7--
    1-Salicylate glucuronide1-salicylic acid glucuronide ----
    11-Hydroxyprogesterone 11-glucuronide11-hydroxyprogesterone 11-glucuronoside (see all 5)77710-64-6--
    11-Oxo-androsterone glucuronide11-oxo-etiocholanolone glucuronide (see all 3)----
    11-beta-hydroxyandrosterone-3-glucuronide11-beta-hydroxyetiocholanolone-3-glucuronide ----
    15-hydroxynorandrostene-3,17-dione glucuronide15-HNADG (see all 5)131749-23-0--
    16-alpha,17-beta-estriol 17-beta-D-glucuronideestra-1,3,5(10)-triene-3,16alpha,17beta-triol 17-D-glucuronide (see all 7)7219-89-8--
    17-alpha-estradiol-3-glucuronide ----

    6 DrugBank Compounds for UGT1A8    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Diflunisal-- 22494-42-4enzymesubstrate10497143
    Morphine(-)-Heroin hydrochloride (see all 12)57-27-2enzymesubstrate18187562
    Mycophenolate mofetilMMF (see all 4)128794-94-5enzymesubstrate11817210
    Propofol2,6-Diisopropylphenol (see all 2)2078-54-8enzymesubstrate19515014
    Troglitazone-- 97322-87-7enzymesubstrate12433820
    Valproic Acid2-Propylpentanoic Acid (see all 8)99-66-1enzymesubstrate15761113

    Selected Novoseek inferred chemical compound relationships for UGT1A8 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    udp glucuronic acid 86.9 1 16595710 (1)
    n-hydroxy phip 77.4 2 11375903 (1)
    mycophenolic acid 66.8 8 17339869 (3), 18568343 (2), 17924828 (1), 16790554 (1)
    imipramine 51 1 12019188 (1)
    mycophenolate mofetil 38.2 4 17339869 (2), 16790554 (1)
    cotinine 37 2 12433823 (1), 12167564 (1)
    estrone 34.5 1 16397224 (1)
    morphine 33.1 1 18187562 (1)
    estradiol 31 1 16397224 (1)
    dihydrotestosterone 29 6 16595710 (4)

    6 PharmGKB related drug/compound annotations for UGT1A8 gene    About this table
    Drug/compound PharmGKB Annotation
    ABT-751CA  
    cyclosporineCA  
    mycophenolate mofetilCA  
    sirolimusCA  
    tacrolimusCA  
    valproic acidCA  



    Find genes that share compounds with UGT1A8           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for UGT1A8 gene: 
    NM_019076.4  

    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373450(uc010zmv.1 uc002vup.3 uc002vva.3) ENST00000609637
    ENST00000608381 ENST00000609767 ENST00000608383 ENST00000360418(uc002vuq.3 uc010zmy.1 uc010znc.1)

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    hsa-miR-1260b hsa-miR-616* hsa-miR-371-5p hsa-miR-1260 hsa-miR-373*
    SwitchGear 3'UTR luciferase reporter plasmidUGT1A8 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: UGT1A8 (NM_019076)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat UGT1A8
      QuantiFast Probe-based Assays in human, mouse, rat UGT1A8

    Selected AceView cDNA sequences (see all 271):

    AY435138 NM_019078 NM_019075 AI795931 NM_019076 BC053576 AU076863 AI479279 
    AY435140 BE464422 NM_000463 AI767337 CB157019 NM_205862 NM_021027 AY435139 
    AY435141 NM_001072 CB162031 BM829535 AY435136 AI478649 NM_019093 AI566081 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    UGT1A8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    UGT1A8 Expression
    About this image

    UGT1A8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UGT1A8 Protein Expression

    UniProtKB/Swiss-Prot: UD18_HUMAN, Q9HAW9
    Tissue specificity: Colon specific

        Custom PCR Arrays for UGT1A8
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UGT1A8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for UGT1A8 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ugt1a85
    Ugt1a91
    UDP glucuronosyltransferase 1 family, polypeptide A85
    UDP glucuronosyltransferase 1 family, polypeptide A91
    80.59(n)1
    80.08(a)1
      1 (44.50 cM)5
    3944341  NM_201644.21  NP_964006.21 
     880878135 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    60(a)
    1 → many
    1(118864159-118904238)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.158082 Xenopus laevis transcribed sequence with weak similarity more 75.69(n)    BJ060547.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fads22 Danio rerio cDNA clone MGC66393 IMAGE5914298, complete more 73.71(n)    BC055635.1 


    ENSEMBL Gene Tree for UGT1A8 (if available)
    TreeFam Gene Tree for UGT1A8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UGT1A8 gene
    UGT1A91 2  UGT1A101 2  UGT1A71 2  UGT2A22  UGT3A12  UGT2B112  UGT2B72  UGT1A32  
    UGT1A12  UGT3A22  UGT1A52  UGT2B102  UGT2A12  UGT1A62  UGT82  UGT2B152  
    UGT2B42  UGT2A32  UGT2B172  UGT2B282  UGT1A42  
    Selected SIMAP similar genes for UGT1A8 using alignment to 5 protein entries:     UD18_HUMAN (see all proteins) (see all similar genes):
    UGT1H    UGT1A8S    UGT1A10    UGT1A9S    UGT1A9    UGT1A3S
    UGT1J    UGT1A7    UGT1G    UGT2A3    UGT1A6    BILIQTL1
    UGT1A6S    UGT1A1    UGT1    UGT1A4S    UGT2B17    UGT2B11

    Find genes that share paralogs with UGT1A8           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for UGT1A8 (see all 428)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289483831,2
    C,F--226334583(+) ATAAGT/AGGAAG 1 -- int13Minor allele frequency- A:0.33NA 6
    rs729844601,2
    --226335459(+) AACTCA/CTGGAT 1 -- int10--------
    rs355387341,2
    C--226336970(+) CAAAC-/GT/TG 
            
    TTAGA
    1 -- int11NA 2
    rs1930197611,2
    --233897046(+) TTTTTG/TATCTT 1 -- us2k10--------
    rs1392333361,2
    --233897053(+) TCTTTG/TTTCAT 1 -- us2k10--------
    rs1499879381,2
    --233897068(+) AGTCTA/GTTTTA 1 -- us2k10--------
    rs1498521971,2
    C--233897084(+) GACTAA/GGATTG 1 -- us2k10--------
    rs1849256771,2
    --233897096(+) AACCCC/GTGCTT 1 -- us2k10--------
    rs1414572441,2
    --233897126(+) TTGGTA/CAATAT 1 -- us2k10--------
    rs1882707261,2
    --233897180(+) AGATGG/TGTCTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for UGT1A8 (234526291 - 234681956 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for UGT1A8 (see all 27):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv769e199CNV Deletion23128226
    esv2661542CNV Deletion23128226
    esv2721664CNV Deletion23290073
    esv2721667CNV Deletion23290073
    esv2721665CNV Deletion23290073
    esv2721666CNV Deletion23290073
    esv2721663CNV Deletion23290073
    esv2721669CNV Deletion23290073
    esv2422005CNV Deletion20811451
    esv2657145CNV Deletion23128226

    Human Gene Mutation Database (HGMD): UGT1A8
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UGT1A8
    DNA2.0 Custom Variant and Variant Library Synthesis for UGT1A8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606433    OMIM disorders: --

    1 disease for UGT1A8:    
    About MalaCards
    kernicterus

    2 diseases from the University of Copenhagen DISEASES database for UGT1A8:
    Bilirubin metabolic disorder     Kernicterus

    Find genes that share disorders with UGT1A8           About GenesLikeMe

    Genetic Association Database (GAD): UGT1A8
    Human Genome Epidemiology (HuGE) Navigator: UGT1A8 (24 documents)

    Export disorders for UGT1A8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for UGT1A8 gene, integrated from 10 sources (see all 105):
    (articles sorted by number of sources associating them with UGT1A8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and functional characterization of UDP- glucuronosyltransferases UGT1A8*1, UGT1A8*2 and UGT1A8*3. (PubMed id 12042666)1, 2, 3 Huang Y.-H.... Tukey R.H. (Pharmacogenetics 2002)
    2. Troglitazone glucuronidation in human liver and intestine microsomes: high catalytic activity of UGT1A8 and UGT1A10. (PubMed id 12433820)1, 7, 9 Watanabe Y....Yokoi T. (Drug Metab. Dispos. 2002)
    3. Expression of the UDP-glucuronosyltransferase 1A locus in human colon. Identification and characterization of the novel extrahepatic UGT1A8. (PubMed id 9535849)1, 2, 9 Strassburg C.P.... Tukey R.H. (J. Biol. Chem. 1998)
    4. The impact of UGT1A8, UGT1A9, and UGT2B7 genetic polymorphisms on the pharmacokinetic profile of mycophenolic acid after a single oral dose in healthy volunteers. (PubMed id 17339869)1, 4, 9 LAcvesque E....Guillemette C. (Clin. Pharmacol. Ther. 2007)
    5. Pharmacogenetic effect of the UGT polymorphisms on mycophenolate is modified by calcineurin inhibitors. (PubMed id 18568343)1, 4, 9 Johnson L.A....Jacobson P.A. (Eur. J. Clin. Pharmacol. 2008)
    6. Characterization of common UGT1A8, UGT1A9, and UGT2B7 variants with different capacities to inactivate mutagenic 4-hydroxylated metabolites of estradiol and estrone. (PubMed id 16397224)1, 4, 9 Thibaudeau J....Guillemette C. (Cancer Res. 2006)
    7. Functional polymorphisms of UDP-glucuronosyltransferases 1A1, 1A6 and 1A8 are not involved in chronic pancreatitis. (PubMed id 15247627)1, 4, 9 Verlaan M....Drenth J.P. (Pharmacogenetics 2004)
    8. Variation of hepatic glucuronidation: Novel functional polymorphisms of the UDP-glucuronosyltransferase UGT1A4. (PubMed id 15057901)1, 4, 9 Ehmer U....Strassburg C.P. (Hepatology 2004)
    9. Genetic polymorphisms in UDP-glucuronosyltransferases and glutathione S-transferases and colorectal cancer risk. (PubMed id 15319294)1, 4, 9 van der Logt E.M....Peters W.H. (Carcinogenesis 2004)
    10. 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. (PubMed id 22511988)1, 4 JylhAovAo J....Hurme M. (PLoS ONE 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54576 HGNC: 12540 AceView: UGT1A1 Ensembl:ENSG00000241635 euGenes: HUgn54576
    ECgene: UGT1A8 Kegg: 54576 H-InvDB: UGT1A8

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for UGT1A8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UGT1A8 gene:
    Search GeneIP for patents involving UGT1A8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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