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UGT1A1 Gene

protein-coding   GIFtS: 64
GCID: GC02P234668

UDP Glucuronosyltransferase 1 Family, Polypeptide A1

(Previous names: UDP glycosyltransferase 1 family, polypeptide A1)
(Previous symbols: UGT1, GNT1)
  See UGT1A1-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)
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Aliases
UDP Glucuronosyltransferase 1 Family, Polypeptide A11 2     UDP-Glucuronosyltransferase 1A12 3
GNT11 2 3 5     UDPGT 1-12 3
UGT11 2 3 5     EC 2.4.1.173 8
UDP Glycosyltransferase 1 Family, Polypeptide A11 2     BILIQTL12 5
Bilirubin-Specific UDPGT Isozyme 12 3     HUG-BR12
UGT-1A2 3     UDPGT2
UGT1*12 3     Bilirubin UDP-Glucuronosyltransferase 1-12
UGT1-012 3     Bilirubin UDP-Glucuronosyltransferase Isozyme 12
UGT1.12 3     UDP-Glucuronosyltransferase 1-12
UGT1A2 3     hUG-BR13
UDP-Glucuronosyltransferase 1-A2 3     

External Ids:    HGNC: 125301   Entrez Gene: 546582   Ensembl: ENSG000002423667   OMIM: 1917405   UniProtKB: P223093   

Export aliases for UGT1A1 gene to outside databases

Previous GC identifers: GC02U990253 GC02P234815 GC02P234878 GC02P234363 GC02P234450 GC02P234193 GC02P234203 GC02P234212 GC02P234223 GC02P234333 GC02P226469


(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 UGT1A1 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 preferred substrate of this enzyme is
bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in
this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. (provided by RefSeq, Jul
2008)

GeneCards Summary for UGT1A1 Gene:
UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) is a protein-coding gene. Diseases associated with UGT1A1 include gilbert syndrome, and cholelithiasis. GO annotations related to this gene include enzyme binding and protein homodimerization activity. An important paralog of this gene is UGT2A2.

UniProtKB/Swiss-Prot: UD11_HUMAN, P22309
Function: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic
xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX-alpha to form both the IX-alpha-C8
and IX-alpha-C12 monoconjugates and diconjugate. Is also able to catalyze the glucuronidation of
17beta-estradiol, 17alpha-ethinylestradiol, 1-hydroxypyrene, 4-methylumbelliferone, 1-naphthol, paranitrophenol,
scopoletin, and umbelliferone

Gene Wiki entry for UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) Gene

PharmGKB "VIP" summary for UGT1A1


(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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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the UGT1A1 gene promoter:
         AML1a   p53   NRSF form 1   p300   Cdc5   HNF-4alpha1   Arnt   HOXA5   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for UGT1A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UGT1A1


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

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

UGT1A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UGT1A1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P234668:  view genomic region     (about GC identifiers)

Start:
234,668,894 bp from pter      End:
234,681,945 bp from pter
Size:
13,052 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: UD11_HUMAN, P22309 (See protein sequence)
Recommended Name: UDP-glucuronosyltransferase 1-1 precursor  
Size: 533 amino acids; 59591 Da
Subunit: Part of a large chaperone multiprotein complex comprising DNAJB11, HSP90B1, HSPA5, HYOU, PDIA2, PDIA4,
PDIA6, PPIB, SDF2L1, UGT1A1 and very small amounts of ERP29, but not, or at very low levels, CALR nor CANX
Sequence caution: Sequence=AAA61247.1; Type=Erroneous gene model prediction; Sequence=AAF03522.2; Type=Erroneous
gene model prediction;
Alternative splicing: 1 isoform:  P22309-1   

Explore the universe of human proteins at neXtProt for UGT1A1: NX_P22309

Explore proteomics data for UGT1A1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn102, Asn295, Asn347
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for UGT1A1 (P22309) (see all 19)
     FWVEFVM  QYHSLDV  DVIGFLL  GSHWLSM 


    See UGT1A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000454.1  
    ENSEMBL proteins: 
     ENSP00000304845  
    Reactome Protein details: P22309

    UGT1A1 Human Recombinant Protein Products:

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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 P22309

    ProtoNet protein and cluster: P22309

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

    UniProtKB/Swiss-Prot: UD11_HUMAN, P22309
    Similarity: Belongs to the UDP-glycosyltransferase family


    Find genes that share domains with UGT1A1           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: UD11_HUMAN, P22309
    Function: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic
    xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX-alpha to form both the IX-alpha-C8
    and IX-alpha-C12 monoconjugates and diconjugate. Is also able to catalyze the glucuronidation of
    17beta-estradiol, 17alpha-ethinylestradiol, 1-hydroxypyrene, 4-methylumbelliferone, 1-naphthol, paranitrophenol,
    scopoletin, and umbelliferone
    Catalytic activity: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside
    Biophysicochemical properties: Kinetic parameters: KM=0.26 uM for bilirubin; Vmax=1080 pmol/min/mg enzyme with
    bilirubin as substrate;

         Enzyme Number (IUBMB): EC 2.4.1.171 2

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001972retinoic acid binding IDA--
    GO:0004857enzyme inhibitor activity IDA19996319
    GO:0005496steroid binding IDA19996319
    GO:0015020glucuronosyltransferase activity TAS--
    GO:0016758transferase activity, transferring hexosyl groups ----
         
    Find genes that share ontologies with UGT1A1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for UGT1A1:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UGT1A1
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    hsa-miR-1260b hsa-miR-616* hsa-miR-371-5p hsa-miR-1260 hsa-miR-373*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    eBioscience FlowRNA Probe Sets ( VA1-13510) for UGT1A1 


    (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
    UD11_HUMAN, P22309: Microsome. Endoplasmic reticulum membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol2
    golgi apparatus2
    nucleus2
    peroxisome2
    plasma membrane2
    extracellular1
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005887integral component of plasma membrane IEA--
    GO:0043231intracellular membrane-bounded organelle ----
    GO:0070069cytochrome complex IEA--

    Find genes that share ontologies with UGT1A1           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 UGT1A1 About   (see all 17)  
    See pathways by source

    SuperPathContained pathways About
    1Biological oxidations
    Biological oxidations0.56
    Sorafenib Pharmacokinetics0.00
    Phase II conjugation0.56
    Glucuronidation0.00
    metapathway biotransformation0.42
    Estradiol metabolism0.00
    Phenytoin Pathway, Pharmacokinetics0.00
    Acetaminophen metabolism0.00
    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
    4Irinotecan Pathway, Pharmacokinetics
    Irinotecan Pathway, Pharmacokinetics0.69
    Irinotecan Pathway, Pharmacodynamics0.50
    Irinotecan Pathway0.69
    5Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38


    Find genes that share SuperPaths with UGT1A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 GeneGo (Thomson Reuters) Pathways for UGT1A1
        Estradiol metabolism
    2-Naphthylamine and 2-Nitronaphtalene metabolism
    Acetaminophen metabolism

    Selected BioSystems Pathways for UGT1A1 (see all 6)
        Glucuronidation
    Codeine and morphine metabolism
    Irinotecan Pathway
    Estrogen metabolism
    AhR pathway


    2 Reactome Pathways for UGT1A1
        Heme degradation
    Glucuronidation

    Selected PharmGKB Pathways for UGT1A1 (see all 13)
        Acetaminophen Pathway, Pharmacokinetics
    Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics
    Codeine and Morphine Pathway, Pharmacokinetics
    Erlotinib Pathway, Pharmacokinetics
    Estrogen Metabolism Pathway

    Selected Kegg Pathways  (Kegg details for UGT1A1) (see all 11):
        Pentose and glucuronate interconversions
    Ascorbate and aldarate metabolism
    Steroid hormone biosynthesis
    Starch and sucrose metabolism
    Retinol metabolism

        Pathway & Disease-focused RT2 Profiler PCR Arrays including UGT1A1: 
              Nephrotoxicity in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for UGT1A1

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

    Selected Interacting proteins for UGT1A1 (P223093 ENSP000003048454) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    B3GALT1Q9Y5Z63, ENSP000003037404I2D: score=1 STRING: ENSP00000303740
    ADH1BENSP000003066064STRING: ENSP00000306606
    ADH4ENSP000002655124STRING: ENSP00000265512
    ADH6ENSP000003783594STRING: ENSP00000378359
    ADH7ENSP000002096654STRING: ENSP00000209665
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 37):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001889liver development IEA--
    GO:0005975carbohydrate metabolic process ----
    GO:0006778porphyrin-containing compound metabolic process TAS--
    GO:0006789bilirubin conjugation TAS1339448
    GO:0006805xenobiotic metabolic process TAS--

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    (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
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      Browse compounds at ApexBio 

    Browse Tocris compounds for UGT1A1 (UD11)

    Selected HMDB Compounds for UGT1A1 (see all 85)    About this table
    CompoundSynonyms CAS #PubMed Ids
    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)115075-59-715843492
    Acetaminophen glucuronide4-acetamidophenyl b-D-glucopyranosiduronic acid (see all 8)16110-10-411714888
    Bilirubin diglucuronide(2S,3S,4S,5R,6S)-6-[3-[2-[[3-[2-[(2S,3R,4S,5S,6S)-6-carboxy-3,4,5-trihydroxy-oxan-2-yl]oxycarbonylethyl]-5-[(E)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(E)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoyloxy]-3,4,5-trihydroxy-oxane-2-carboxylate (see all 5)17459-92-69884306
    Bilirubin glucuronidebilirubin glucuronate (see all 10)--9884306
    Ethyl glucuronide 17685-04-016139098
    Ketoprofen glucuronide1-(3-benzoyl-alpha-methylbenzeneacetate) beta-D-glucopyranuronic acid (see all 4)76690-94-315843492
    Retinyl beta-glucuronideRetinyl b-glucuronide (see all 2)--8600986
    (23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)(23S)-23,25-dihydroxy-24-oxovitamin D3 23-(beta-glucuronide) (see all 5)----
    1-Salicylate glucuronide1-salicylic acid glucuronide ----
    11-Hydroxyprogesterone 11-glucuronide11-hydroxyprogesterone 11-glucuronoside (see all 5)77710-64-6--

    Selected DrugBank Compounds for UGT1A1 (see all 36)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Estradiol17beta oestradiol (see all 7)50-28-2enzymesubstrate11159893 15535854 20620155
    Axitinib-- 319460-85-0enzymesubstrate23677771 22170007
    Ezetimibe-- 163222-33-1enzymesubstrate15871634 21368751
    Ezogabine D-23129 (see all 5)150812-12-7enzymesubstrate16713428 10220490
    IndomethacinIMN (see all 9)53-86-1enzymesubstrate inhibitor15593333 19515014
    Mycophenolic acid-- 24280-93-1enzymesubstrate21123165 16790558
    RifampinRFP (see all 3)13292-46-1enzymeinducer11829457 16288819
    Abacavir-- 136470-78-5enzyme--18479171
    AcetaminophenAcetaminofen (see all 5)103-90-2enzymesubstrate8494539
    Adenine1H-Purin-6-amine (see all 5)73-24-5enzymeinhibitor17764847

    Selected Novoseek inferred chemical compound relationships for UGT1A1 gene (see all 100)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    uridine diphosphate 92.6 37 14586211 (2), 10340924 (1), 19343046 (1), 18375480 (1) (see all 31)
    irinotecan 90.8 208 19125128 (6), 17558305 (5), 19125129 (5), 15280927 (5) (see all 92)
    sn38 glucuronide 89.7 20 18418374 (1), 16166450 (1), 16965601 (1), 17558305 (1) (see all 8)
    sn 38 85.8 15 10340924 (1), 16545899 (1), 20196838 (1), 12485959 (1) (see all 13)
    udp glucuronic acid 82.3 2 11956667 (1)
    androstane 79.9 13 15849716 (2), 16399345 (1), 18334180 (1), 19541828 (1) (see all 10)
    n-hydroxy phip 79.4 18 15310245 (5), 11408353 (3), 11375903 (1), 11442279 (1)
    anthraflavic acid 77.7 2 12386134 (1), 12433804 (1)
    glucuronide 75.1 8 12639971 (1), 9789606 (1), 16504606 (1), 11560872 (1) (see all 6)
    uridine 71.5 16 15111762 (2), 18021224 (1), 17949292 (1), 20350053 (1) (see all 15)

    Selected PharmGKB related drug/compound annotations for UGT1A1 gene (see all 14)    About this table
    Drug/compound PharmGKB Annotation
    SN-38CA  
    atazanavirCA  
    carvedilolCA  
    clobazam
    eltrombopag
    erlotinib
    indacaterol
    indinavirCA  
    irinotecan  CA  
    nilotinib  CA  



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    (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 UGT1A1 gene: 
    NM_000463.2  

    Unigene Cluster for UGT1A1:

    UDP glucuronosyltransferase 1 family, polypeptide A1
    Hs.554822  [show with all ESTs]
    Unigene Representative Sequence: DQ364247
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000305208(uc002vvb.3)
    miRNA
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    hsa-miR-1260b hsa-miR-616* hsa-miR-371-5p hsa-miR-1260 hsa-miR-373*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    eBioscience FlowRNA Probe Sets ( VA1-13510) for UGT1A1 

    Additional mRNA sequence: 

    AF030310.1 AF056188.1 AF462267.1 AF462268.1 AK025403.1 AK290834.1 AK313488.1 AK313510.1 
    AK313623.1 AY435136.1 AY435137.1 AY435138.1 AY435139.1 AY435140.1 AY435141.1 AY435142.1 
    AY435143.1 AY435144.1 BC011409.1 BC019861.1 BC020971.1 BC043491.1 BC053576.1 BC058844.1 
    BC069210.1 BC121036.1 BC128414.1 BC128415.1 BC131623.1 BC139784.1 DQ364246.1 DQ364247.1 
    DQ364248.1 DQ364249.1 DQ364250.1 DQ364251.1 DQ383513.1 DQ383514.1 J04093.1 JQ686667.1 
    JQ699637.1 JQ699638.1 JQ699639.1 JQ699640.1 JQ699641.1 JQ699642.1 JQ699643.1 JQ699644.1 
    JQ699645.1 JQ699646.1 JQ699647.1 JQ699649.1 JQ699650.1 M57899.1 M57951.1 S55985.1 
    U89507.1 U89508.1 

    15 DOTS entries:

    DT.444657  DT.91760041  DT.40291686  DT.95274199  DT.100794982  DT.100794979  DT.92022858  DT.102842562 
    DT.121031104  DT.97778278  DT.121031076  DT.121031081  DT.121031100  DT.402187  DT.95190621 

    Selected AceView cDNA sequences (see all 271):

    AU076863 AI795931 AV646429 AW297730 BE464186 AY435142 AI478649 BC053576 
    AY435140 AI479279 NM_019076 AY435136 CB163341 NM_205862 BE463503 BE464379 
    AV650286 AY435141 NM_019093 CB157019 NM_007120 NM_001072 NM_019078 AY435138 

    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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    UGT1A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTGTTTGG
    UGT1A1 Expression
    About this image


    UGT1A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Liver (Hepatobiliary System)
             Mature Hepatocytes Liver Lobule
     
     Esophagus (Gastrointestinal Tract)
     
     Kidney (Urinary System)
    UGT1A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UGT1A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.554822

    UniProtKB/Swiss-Prot: UD11_HUMAN, P22309
    Tissue specificity: Expressed in liver. Not expressed in skin or kidney

        Pathway & Disease-focused RT2 Profiler PCR Arrays including UGT1A1: 
              Nephrotoxicity in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    (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 animals.

    Orthologs for UGT1A1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ugt1a11 , 5 UDP glucuronosyltransferase 1 family, polypeptide A11, 5 81.64(n)1
    79.69(a)1
      1 (44.55 cM)5
    3944361  NM_201645.21  NP_964007.21 
     882119595 
    chicken
    (Gallus gallus)
    Aves UGT1A11 UDP glucuronosyltransferase 1 family, polypeptide A1 66.27(n)
    64.23(a)
      424028  XM_003641558.2  XP_003641606.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    64(a)
    1 → many
    1(118864159-118904238)
    zebrafish
    (Danio rerio)
    Actinopterygii ugt1a11 UDP glucuronosyltransferase 1 family polypeptide a1 58.3(n)
    54.78(a)
      641488  NM_001037428.2  NP_001032505.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ugt36Bb3
    CG101781
    glucuronosyltransferase3
    CG101781
    39(a)
    (best of 12)3
    47.54(n)1
    34.8(a)1
      36B13
    351051  NM_136038.21  NP_609882.11 


    ENSEMBL Gene Tree for UGT1A1 (if available)
    TreeFam Gene Tree for UGT1A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UGT1A1 gene
    UGT2A22  UGT1A82  UGT3A12  UGT1A72  UGT2B112  UGT2B72  UGT1A32  UGT3A22  
    UGT1A52  UGT2B102  UGT2A12  UGT1A102  UGT1A62  UGT82  UGT2B152  UGT2B42  
    UGT2A32  UGT2B172  UGT2B282  UGT1A92  UGT1A42  
    Selected SIMAP similar genes for UGT1A1 using alignment to 6 protein entries:     UD11_HUMAN (see all proteins) (see all similar genes):
    BILIQTL1    UGT1A3S    UGT1A9S    UGT1    UGT1A6    UGT1A8S
    UGT1A4S    UGT1A6S    UGT1A5    UGT1A10    UGT1A4    UGT1A3
    UGT1A9    UGT1A8    UGT2A3    UGT2B17    UGT2B15    UGT1A7

    Find genes that share paralogs with UGT1A1           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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    UD11_HUMAN, P22309: Genetic variation in UGT1A1 defines the bilirubin serum levels quantitative trait locus 1 (BILIQTL1)
    [MIM:601816]. Variation in serum bilirubin is associated with altered cardiovascular disease risk and drug
    metabolism


    Selected SNPs for UGT1A1 (see all 56)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0649564
    Crigler-Najjar syndrome 2 (CN2)4--see VAR_0649562 S F mis40--------
    VAR_0194114
    Crigler-Najjar syndrome 2 (CN2)4--see VAR_0194112 L Q mis40--------
    VAR_0076994
    Crigler-Najjar syndrome 1 (CN1)4--see VAR_0076992 G R mis40--------
    VAR_0077024
    Crigler-Najjar syndrome 2 (CN2)4--see VAR_0077022 Q R mis40--------
    VAR_0649604
    Crigler-Najjar syndrome 1 (CN1)4--see VAR_0649602 K T mis40--------
    VAR_0077084
    Crigler-Najjar syndrome 1 (CN1)4--see VAR_0077082 K E mis40--------
    VAR_0261424
    Crigler-Najjar syndrome 2 (CN2)4--see VAR_0261422 R W mis40--------
    VAR_0261484
    Crigler-Najjar syndrome 2 (CN2)4--see VAR_0261482 R C mis40--------
    VAR_0077034
    Crigler-Najjar syndrome 1 (CN1)4--see VAR_0077032 Q R mis40--------
    rs41483231,2,4
    Transient familial neonatal hyperbilirubinemia (HBLRTFN)4--see VAR_0095042 mis40--------

    HapMap Linkage Disequilibrium report for UGT1A1 (234668894 - 234681945 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for UGT1A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3215CNV Loss18451855

    Human Gene Mutation Database (HGMD): UGT1A1
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing UGT1A1
    DNA2.0 Custom Variant and Variant Library Synthesis for UGT1A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 191740   
    OMIM disorders: 218800  143500  606785  237900  601816  
    UniProtKB/Swiss-Prot: UD11_HUMAN, P22309
  • Gilbert syndrome (GILBS) [MIM:143500]: Occurs as a consequence of reduced bilirubin transferase activity
    and is often detected in young adults with vague non-specific complaints. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Transient familial neonatal hyperbilirubinemia (HBLRTFN) [MIM:237900]: A condition characterized by
    excessive concentration of bilirubin in the blood, which may lead to jaundice. Breast milk jaundice is a common
    problem in nursing infants. Note=The disease may be caused by mutations affecting the gene represented in this
    entry. The defect has been ascribed to various breast milk substances, but the component or combination of
    components that is responsible remains unclear. Defects of UGT1A1 are an underlying cause of the prolonged
    unconjugated hyperbilirubinemia associated with breast milk. One or more components in the milk may trigger the
    jaundice in infants who have such mutations. Mutations are identical to those detected in patients with Gilbert
    syndrome, a risk factor of neonatal non-physiologic hyperbilirubinemia and a genetic factor in fasting
    hyperbilirubinemia
  • Crigler-Najjar syndrome 1 (CN1) [MIM:218800]: Patients have severe hyperbilirubinemia and usually die of
    kernicterus (bilirubin accumulation in the basal ganglia and brainstem nuclei) within the first year of life. CN1
    inheritance is autosomal recessive. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Crigler-Najjar syndrome 2 (CN2) [MIM:606785]: Patients have less severe hyperbilirubinemia and usually
    survive into adulthood without neurologic damage. Phenobarbital, which induces the partially deficient glucuronyl
    transferase, can diminish the jaundice. CN2 inheritance is autosomal dominant. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for UGT1A1 (see all 22):    
    About MalaCards
    gilbert syndrome    cholelithiasis    brain stem glioma    crigler-najjar syndrome
    lucey-driscoll syndrome    crigler najjar syndrome, type 2    kernicterus    5-fluorouracil toxicity
    neonatal jaundice    gallbladder disease    choledocholithiasis    drug-induced hepatitis
    sickle cell anemia    pyloric stenosis    dubin-johnson syndrome    hypertrophic pyloric stenosis
    leukopenia    beta thalassemia    multiple chemical sensitivity    carcinoid syndrome

    7 diseases from the University of Copenhagen DISEASES database for UGT1A1:
    Bilirubin metabolic disorder     Neonatal jaundice     Neutropenia     Kernicterus
    Diarrhea     Colorectal cancer     Cholelithiasis

    Find genes that share disorders with UGT1A1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for UGT1A1 gene (see all 42)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gilberts syndrome 97.1 134 10091406 (4), 7565971 (3), 12499798 (3), 12139570 (3) (see all 89)
    crigler-najjar syndrome 93.8 32 11855932 (2), 9156798 (2), 19830808 (2), 10097514 (1) (see all 27)
    hyperbilirubinemia 92.4 116 15965581 (4), 11422622 (3), 19672597 (3), 14647407 (3) (see all 72)
    crigler-najjar syndrome, type ii 91 9 9630669 (2), 11983459 (1), 7565971 (1), 10364060 (1) (see all 8)
    jaundice neonatal 81.2 19 12357057 (2), 19397531 (2), 12502904 (2), 15491385 (1) (see all 15)
    najjar syndrome 80.6 1 16969497 (1)
    kernicterus 63.3 3 9653159 (1), 11370628 (1), 16735790 (1)
    neutropenia 62.2 16 19125128 (4), 19125129 (2), 19390945 (2), 19620808 (2) (see all 9)
    g6pd deficiency 57.3 9 15965581 (2), 16237771 (2), 12439228 (1), 12680285 (1) (see all 6)
    cholelithiasis 51.5 22 18081723 (5), 15710570 (4), 16237771 (3), 19309288 (2) (see all 9)

    Genetic Association Database (GAD): UGT1A1
    Human Genome Epidemiology (HuGE) Navigator: UGT1A1 (289 documents)

    Export disorders for UGT1A1 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 UGT1A1 gene, integrated from 10 sources (see all 873):
    (articles sorted by number of sources associating them with UGT1A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide association meta-analysis for total serum bilirubin levels. (PubMed id 19414484)1, 2, 4, 9 Johnson A.D.... Witteman J.C. (Hum. Mol. Genet. 2009)
    2. Association of genetic polymorphisms in UGT1A1 with breast cancer and plasma hormone levels. (PubMed id 11401924)1, 4, 9 Guillemette C....Hunter D.J. (amp 2001)
    3. Genetic polymorphisms in the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene and prostate cancer risk in Caucasian men. (PubMed id 20308029)1, 4, 9 Karatzas A....Tsezou A. (Cancer Epidemiol 2010)
    4. Homozygous variant of UGT1A1 gene mutation and severe neonatal hyperbilirubinemia. (PubMed id 19674361)1, 4, 9 Boo N.Y....Othman A. (Pediatr Int 2009)
    5. Genetic polymorphisms in human SULT1A1 and UGT1A1 genes associate with breast tumor characteristics: a case-series study. (PubMed id 16280036)1, 4, 9 Shatalova E.G....Blanchard R.L. (Breast Cancer Res. 2005)
    6. Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants. (PubMed id 19830808)1, 2, 9 Sneitz N....Bosma P.J. (Hum. Mutat. 2010)
    7. UGT1A1 gene polymorphism: impact on toxicity and efficacy of irinotecan-based regimens in metastatic colorectal cancer. (PubMed id 19859999)1, 4, 9 Schulz C....Stemmler H.J. (World J. Gastroenterol. 2009)
    8. Association between promoter and coding region mutations of UDP-glucuronosyltransferase 1A1 and beta-thalassemia/Hb E with cholelithiasis. (PubMed id 18081723)1, 4, 9 Tankanitlert J....Chantharaksri U. (Eur. J. Haematol. 2008)
    9. Irinotecan pharmacokinetics/pharmacodynamics and UGT1A genetic polymorphisms in Japanese: roles of UGT1A1*6 and *28. (PubMed id 17558305)1, 4, 9 Minami H....Saijo N. (Pharmacogenet. Genomics 2007)
    10. Pharmacogenetic impact of polymorphisms in the coding region of the UGT1A1 gene on SN-38 glucuronidation in Japanese patients with cancer. (PubMed id 16965601)1, 4, 9 Araki K....Sasaki Y. (Cancer Sci. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 54658 HGNC: 12530 AceView: UGT1A1 Ensembl:ENSG00000242366 euGenes: HUgn54658
    ECgene: UGT1A1 Kegg: 54658 H-InvDB: UGT1A1

    (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 UGT1A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=UGT1A1[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Glucuronosyltransferase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UGT1A1 gene:
    Search GeneIP for patents involving UGT1A1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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