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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UGT1A8 Gene

protein-coding   GIFtS: 52
GCID: GC02P234526

UDP Glucuronosyltransferase 1 Family, Polypeptide A8

(Previous names: UDP glycosyltransferase 1 family, polypeptide A8)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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: ENSG000002423667   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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and neonatal jaundice, and among its related super-pathways are Ascorbate and aldarate metabolism and Tamoxifen Pathway, Pharmacokinetics. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for UGT1A8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UD18_HUMAN, Q9HAW9 (See protein sequence)
Recommended Name: UDP-glucuronosyltransferase 1-8 precursor  
Size: 530 amino acids; 59742 Da
Subcellular location: Microsome. Endoplasmic reticulum membrane; Single-pass membrane protein (Potential)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HAW9

  • 4/24 DME Specific Peptides for UGT1A8 (Q9HAW9) (see all 24)
     PEVSWQL  FWVEFVM  WLLRTDF  QYHSLDV 

    UGT1A8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UGT1A8 Protein Expression
    REFSEQ proteins: NP_061949.3  
    ENSEMBL proteins: 
     ENSP00000362549  
    Reactome Protein details: Q9HAW9
    Human Recombinant Protein Products for UGT1A8: 
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    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral to membrane IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    UGT1A8 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    UGT1A8 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    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--
         
    UGT1A8 for ontologies           About GeneDecksing


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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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UGT1A8


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for UGT1A8 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Glucuronidation
    Glucuronidation0.67
    Starch and sucrose metabolism0.41
    Glucuronidation0.67
    Porphyrin and chlorophyll metabolism0.38
    Ascorbate and aldarate metabolism0.61
    Drug metabolism - other enzymes0.33
    Pentose and glucuronate interconversions0.61
    Steroid hormone biosynthesis0.30
    2Tamoxifen metabolism
    Tamoxifen metabolism0.68
    Tamoxifen Pathway, Pharmacokinetics0.68
    3Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    4Drug metabolism - cytochrome P450
    Metabolism of xenobiotics by cytochrome P4500.77
    Drug metabolism - cytochrome P4500.73
    Chemical carcinogenesis0.77
    Retinol metabolism0.39
    5Biological oxidations
    Biological oxidations0.55
    Phase II conjugation0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for UGT1A8
        2-Naphthylamine and 2-Nitronaphtalene metabolism
    Retinol metabolism


    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)

    4        Reactome Pathways for UGT1A8
        Metabolism
    Biological oxidations
    Phase II conjugation
    Glucuronidation

    5/6 PharmGKB Pathways for UGT1A8 (see all 6)
        Estrogen Metabolism Pathway
    Irinotecan Pathway, Pharmacodynamics
    Mycophenolic acid Pathway, Pharmacokinetics/Pharmacodynamics
    Tamoxifen Pathway, Pharmacokinetics
    Tramadol Pharmacokinetics

    5/11         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


    UGT1A8 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UGT1A8

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

    5/56 Interacting proteins for UGT1A8 (ENSP000003625494) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADH1BENSP000003066064STRING: ENSP00000306606
    ADH4ENSP000002655124STRING: ENSP00000265512
    AKR1C4ENSP000002631264STRING: ENSP00000263126
    BLVRAENSP000002655234STRING: ENSP00000265523
    CES2ENSP000003178424STRING: ENSP00000317842
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0006631fatty acid metabolic process IDA--
    GO:0008152metabolic process ----
    GO:0008202steroid metabolic process IC19996319
    GO:0009804coumarin metabolic process IC19996319

    UGT1A8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    UGT1A8 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UGT1A8 (UD18)

    10/84 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

    10/12 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)

    2 PharmGKB related drug/compound annotations for UGT1A8 gene    About this table
    Drug/compound PharmGKB Annotation
    ABT-751CA  
    valproic acidCA  

    Search CenterWatch for drugs/clinical trials and news about UGT1A8 / UD18

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UGT1A8 gene: 
    NM_019076.4  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000373450(uc010zmv.1 uc002vup.3 uc002vva.3)
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    24/271 AceView cDNA sequences (see all 271):

    BM829535 AY435140 BE464379 AY435139 NM_019075 BC053576 BE463503 CB163341 
    AI913618 AV660038 AK025403 CB157019 NM_019093 AY435143 AY435141 BE464186 
    AI795931 AY435138 AY435142 CB163625 BI764371 AU076863 AI479279 BG165230 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See UGT1A8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UGT1A8

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

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for UGT1A8 gene from 4/10 species (see all 10)    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 
    chicken
    (Gallus gallus)
    Aves --
    --
    --
    60(a)
    44(a)
    many ↔ many
    many ↔ many
    7(5735050-5897491)
    7(5872756-5873724)
    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)
    About This Section
    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  
    18/30 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

    UGT1A8 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/428 SNPs in UGT1A8 are shown (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
    ----------
    VAR_0155464
    ----see VAR_0155462 T A mis40--------
    VAR_0155434
    ----see VAR_0155432 K R mis40--------
    VAR_0585864
    ----see VAR_0585862 A T mis40--------
    VAR_0155474
    ----see VAR_0155472 M L mis40--------
    VAR_0155444
    ----see VAR_0155442 G A mis40--------
    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--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/27 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606433    OMIM disorders: --

    15 diseases for UGT1A8:    About MalaCards
    kernicterus    neonatal jaundice    jaundice    esophageal adenocarcinoma
    cholelithiasis    sickle cell anemia    cytochrome p450    esophageal cancer
    colorectal cancer    anemia    esophagitis    adenocarcinoma
    pancreatitis    thyroiditis    hepatitis

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

    UGT1A8 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for UGT1A8 gene, integrated from 9 sources (see all 103):
    (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. (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. (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. (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 Levesque E....Guillemette C. (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. (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. (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. (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. (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. (2004)
    10. A genome-wide association study identifies UGT1A1 as a regulator of serum cell-free DNA in young adults: The Cardiovascular Risk in Yo ung Finns Study. (PubMed id 22511988)1, 4 Jylhava J....Hurme M. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      (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)
    About This Section
    Entrez Gene: 54576 HGNC: 12540 AceView: UGT1A1 Ensembl:ENSG00000242366 euGenes: HUgn54576
    ECgene: UGT1A8 Kegg: 54576 H-InvDB: UGT1A8

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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