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

UGT1A6 Gene

protein-coding   GIFtS: 58
GCID: GC02P234600

UDP Glucuronosyltransferase 1 Family, Polypeptide A6

(Previous names: UDP glycosyltransferase 1 family, polypeptide A6)
  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 A61 2     UDP-Glucuronosyltransferase 1-F2 3
UDP Glycosyltransferase 1 Family, Polypeptide A61 2     UDP-Glucuronosyltransferase 1A62 3
Phenol-Metabolizing UDP-Glucuronosyltransferase2 3     UDPGT 1-62 3
GNT12 3     EC 2.4.1.173 8
UGT-1F2 3     HLUGP2
UGT12 3     HLUGP12
UGT1*62 3     UDPGT2
UGT1-062 3     UGT1A6S2
UGT1.62 3     UDP-Glucuronosyltransferase 1 Family Polypeptide A6s2
UGT1F2 3     UDP-Glucuronosyltransferase 1-62

External Ids:    HGNC: 125381   Entrez Gene: 545782   Ensembl: ENSG000001671657   OMIM: 6064315   UniProtKB: P192243   

Export aliases for UGT1A6 gene to outside databases

Previous GC identifers: GC02U990248 GC02P234819 GC02P234882 GC02P234367 GC02P234382 GC02P234197 GC02P234208 GC02P234217 GC02P234265 GC02P226400


(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 UGT1A6 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 is active on
phenolic and planar compounds. Alternative splicing in the unique 5' end of this gene results in two transcript
variants. (provided by RefSeq, Jul 2008)

GeneCards Summary for UGT1A6 Gene: 
UGT1A6 (UDP glucuronosyltransferase 1 family, polypeptide A6) is a protein-coding gene. Diseases associated with UGT1A6 include drug-induced hepatitis, and crigler najjar syndrome, type 2, and among its related super-pathways are Ascorbate and aldarate metabolism and Phase II conjugation. GO annotations related to this gene include enzyme binding and protein homodimerization activity. An important paralog of this gene is UGT2A2.

UniProtKB/Swiss-Prot: UD16_HUMAN, P19224
Function: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic
xenobiotics and endogenous compounds. This isoform has specificity for phenols

Gene Wiki entry for UGT1A6 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 UGT1A6 gene promoter:
         p53   AP-1   ATF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UGT1A6


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

UGT1A6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UGT1A6 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P234600:  view genomic region     (about GC identifiers)

Start:
234,600,253 bp from pter      End:
234,681,951 bp from pter
Size:
81,699 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: UD16_HUMAN, P19224 (See protein sequence)
Recommended Name: UDP-glucuronosyltransferase 1-6 precursor  
Size: 532 amino acids; 60751 Da
Subcellular location: Microsome. Endoplasmic reticulum membrane; Single-pass membrane protein (Potential)
Sequence caution: Sequence=BM924331; Type=Erroneous termination; Positions=420; Note=Translated as Glu;
Sequence=BM924331; Type=Frameshift; Positions=451, 463; Sequence=BM924331; Type=Miscellaneous discrepancy;
Note=Probable cloning artifact;
Secondary accessions: A6NKK6 Q96TE7
Alternative splicing: 2 isoforms:  P19224-1   P19224-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UGT1A6: NX_P19224

Explore proteomics data for UGT1A6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P19224

  • 4/21 DME Specific Peptides for UGT1A6 (P19224) (see all 21)
     FWVEFVM  QYHSLDV  DVIGFLL  GSHWLSM 

    UGT1A6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UGT1A6 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001063.2  NP_995584.1  

    ENSEMBL proteins: 
     ENSP00000362523   ENSP00000389637   ENSP00000401541   ENSP00000303174   ENSP00000419780  
     ENSP00000386107  
    Reactome Protein details: P19224
    Human Recombinant Protein Products for UGT1A6: 
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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 TAS--
    GO:0016021integral to membrane IEA--
    GO:0043231intracellular membrane-bounded organelle NAS--

    UGT1A6 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 P19224

    ProtoNet protein and cluster: P19224

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

    UniProtKB/Swiss-Prot: UD16_HUMAN, P19224
    Similarity: Belongs to the UDP-glycosyltransferase family


    UGT1A6 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: UD16_HUMAN, P19224
    Function: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic
    xenobiotics and endogenous compounds. This isoform has specificity for phenols
    Catalytic activity: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside

         Enzyme Number (IUBMB): EC 2.4.1.171 2

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001972NOT retinoic acid binding IDA--
    GO:0015020glucuronosyltransferase activity IEA--
    GO:0016758transferase activity, transferring hexosyl groups ----
    GO:0019899enzyme binding IDA--
    GO:0030246carbohydrate binding ----
         
    UGT1A6 for ontologies           About GeneDecksing


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    (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 UGT1A6 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
    2Biological oxidations
    Biological oxidations0.55
    metapathway biotransformation0.41
    Phase II conjugation0.55
    3Acetaminophen metabolism
    Acetaminophen metabolism0.43
    2-Naphthylamine and 2-Nitronaphtalene metabolism0.32
    Acetaminophen Pathway, Pharmacokinetics0.43
    4Irinotecan Pathway, Pharmacokinetics
    Irinotecan Pathway0.69
    Irinotecan Pathway, Pharmacodynamics0.50
    5Metabolism
    Metabolism0.40
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for UGT1A6
        2-Naphthylamine and 2-Nitronaphtalene metabolism
    Acetaminophen metabolism
    Benzo[a]pyrene metabolism


    3 GeneGo (Thomson Reuters) Pathways for UGT1A6
        2-Naphthylamine and 2-Nitronaphtalene metabolism
    Benzo[a]pyrene metabolism
    Acetaminophen metabolism

    5/6 BioSystems Pathways for UGT1A6 (see all 6)
        Glucuronidation
    Irinotecan Pathway
    Oxidative Stress
    Estrogen metabolism
    AhR pathway


    4        Reactome Pathways for UGT1A6
        Metabolism
    Biological oxidations
    Phase II conjugation
    Glucuronidation

    4 PharmGKB Pathways for UGT1A6
        Acetaminophen Pathway, Pharmacokinetics
    Irinotecan Pathway, Pharmacodynamics
    Phenytoin Pathway, Pharmacokinetics
    Valproic Acid Pathway, Pharmacokinetics

    5/11         Kegg Pathways  (Kegg details for UGT1A6) (see all 11):
        Pentose and glucuronate interconversions
    Ascorbate and aldarate metabolism
    Steroid hormone biosynthesis
    Starch and sucrose metabolism
    Retinol metabolism


    UGT1A6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UGT1A6

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

    5/56 Interacting proteins for UGT1A6 (ENSP000003031744) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADH1AENSP000002096684STRING: ENSP00000209668
    ADH1BENSP000003066064STRING: ENSP00000306606
    ADH4ENSP000002655124STRING: ENSP00000265512
    ADH7ENSP000002096654STRING: ENSP00000209665
    ALDH1A1ENSP000002977854STRING: ENSP00000297785
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0006805xenobiotic metabolic process TAS--
    GO:0008152metabolic process NAS--
    GO:0030259lipid glycosylation ----
    GO:0044281small molecule metabolic process TAS--

    UGT1A6 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

    UGT1A6 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for UGT1A6 (UD16)

    10/85 HMDB Compounds for UGT1A6 (see all 85)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Acetaminophen glucuronide4-acetamidophenyl b-D-glucopyranosiduronic acid (see all 8)16110-10-411903872 11714888
    Ethyl glucuronide 17685-04-016139098
    Retinyl beta-glucuronideRetinyl b-glucuronide (see all 2)--8600986
    Valproic acid glucuronide1-(2-propylpentanoate) beta-D-Glucopyranuronate (see all 18)60113-83-912732356
    (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 ----

    10/34 Novoseek inferred chemical compound relationships for UGT1A6 gene (see all 34)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    4-methylumbelliferone 88.9 11 9058595 (1), 10220484 (1), 16545899 (1), 17027947 (1) (see all 7)
    udp glucuronic acid 86.1 2 9058595 (1), 9107538 (1)
    1-naphthol 83.9 9 8161205 (2), 11317477 (2), 19487247 (1), 11437353 (1) (see all 7)
    uridine diphosphate 81.8 6 16802850 (1), 19437564 (1), 18161889 (1), 16797247 (1) (see all 5)
    glucuronide 74.2 4 9762354 (1), 17359941 (1), 11560872 (1), 11408353 (1)
    beta-naphthoflavone 72.5 7 16545899 (3), 10901286 (1), 11437649 (1), 8738480 (1)
    p-nitrophenol 71.3 5 12695347 (1), 10471066 (1), 12386132 (1), 9107538 (1) (see all 5)
    n-hydroxy phip 68.6 2 11375903 (1)
    4-hydroxycoumarin 65.4 1 10471066 (1)
    3-methylcholanthrene 62.8 6 8689937 (1), 11274859 (1), 19525444 (1), 11437649 (1)

    1 PharmGKB related drug/compound annotation for UGT1A6 gene    About this table
    Drug/compound PharmGKB Annotation
    valproic acidCA  

    Search CenterWatch for drugs/clinical trials and news about UGT1A6 / UD16

    (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,
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    About This Section

    REFSEQ mRNAs for UGT1A6 gene (2 alternative transcripts): 
    NM_001072.3  NM_205862.1  

    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373424 ENST00000441351 ENST00000480628 ENST00000446481 ENST00000305139(uc002vuu.3 uc002vuv.4)
    ENST00000484784 ENST00000478062 ENST00000406651
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    24/271 AceView cDNA sequences (see all 271):

    BG165230 AV650286 AI478649 AY435136 AI913618 AY435140 AW297730 CB163341 
    AY435142 AY435137 NM_019078 CB162031 NM_021027 AV646429 NM_019077 BE464186 
    BE463503 BM829535 NM_205862 AI767337 AY435139 BI764371 NM_019093 AK025403 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for UGT1A6 (see all 11)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c
    SP1:                    -     -     -     -     -     -     -     -     -     -     -                       -                     
    SP2:                                                  -     -     -     -     -     -                       -                     
    SP3:        -     -     -     -     -     -     -     -     -     -     -     -     -                       -                     
    SP4:                                                        -     -     -     -     -                       -                     
    SP5:                                                              -     -     -     -                       -                     


    ECgene alternative splicing isoforms for UGT1A6

    (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

    UGT1A6 expression in normal human tissues (normalized intensities)      UGT1A6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    UGT1A6 Expression
    About this image


    UGT1A6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/30 selected tissues (see all 30) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Hippocampus
             brain/hindbrain   
     
     Epithelium (Uncategorized)    fully expand to see all 5 entries
             Human Tracheal Epithelial Cells (HTEpiC)   
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Stem Bronchi
             Human Tracheal Epithelial Cells (HTEpiC)   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             urinary bladder ; urothelial cells   
             visceral organ   

    See UGT1A6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UGT1A6

    UniProtKB/Swiss-Prot: UD16_HUMAN, P19224
    Tissue specificity: Expressed in skin, kidney and liver

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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for UGT1A6 gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ugt1a6a1 , 5 UDP glucuronosyltransferase 1 family, polypeptide A6A1, 5 81.48(n)1
    79.66(a)1
      1 (44.52 cM)5
    942841  NM_145079.31  NP_659545.21 
     881348095 
    lizard
    (Anolis carolinensis)
    Reptilia UGT1A66
    Uncharacterized protein
    56(a)
    1 ↔ 1
    1(118848249-118849106)
    zebrafish
    (Danio rerio)
    Actinopterygii ugt1ab6
    ugt1b46
    UDP glucuronosyltransferase 1 family a, b
    UDP glucuronosyltransferase 1 family, polypeptide ...
    51(a)
    46(a)
    many ↔ many
    many ↔ many
    9(10194767-10228512)
    11(31171792-31204741)


    ENSEMBL Gene Tree for UGT1A6 (if available)
    TreeFam Gene Tree for UGT1A6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UGT1A6 gene
    UGT2A22  UGT1A82  UGT3A12  UGT1A72  UGT2B112  UGT2B72  UGT1A32  UGT1A12  
    UGT3A22  UGT1A52  UGT2B102  UGT2A12  UGT1A102  UGT82  UGT2B152  UGT2B42  
    UGT2A32  UGT2B172  UGT2B282  UGT1A92  UGT1A42  
    18/30 SIMAP similar genes for UGT1A6 using alignment to 6 protein entries:     UD16_HUMAN (see all proteins) (see all similar genes):
    UGT1A6S    UGT1A3S    UGT1A9S    UGT1A8S    UGT1A10    UGT1A1
    BILIQTL1    UGT1A4S    UGT1A8    UGT2A3    UGT1A9    UGT1A4
    UGT2B7    UGT1A5    UGT1A7    UGT2B4    UGT2B15    UGT2B17

    UGT1A6 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

    UniProtKB/Swiss-Prot: UD16_HUMAN, P19224
    Polymorphism: Polymorphisms in the UGT1A6 gene define four common haplotypes: UGT1A6*1, UGT1A6*2, UGT1A6*3 and
    UGT1A6*4. Liver tissue samples that were homozygous for UGT1A6*2 exhibited a high rate of glucuronidation
    relative to tissues with other genotypes. Biochemical kinetic studies indicate that the UGT1A6*2 allozyme,
    expressed homozygously, had almost two-fold greater activity toward p-nitrophenol than UGT1A6*1 and when
    expressed heterozygously (UGT1A6*1/*2) it is associated with low enzyme activity. Common genetic variation in
    UGT1A6 confers functionally significant differences in biochemical phenotype. This genetic variation might impact
    clinical efficacy or toxicity of drugs metabolized by UGT1A6


    5 SNPs in UGT1A6 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0266294
    ----see VAR_0266292 A P mis40--------
    VAR_0246854
    ----see VAR_0246852 S A mis40--------
    VAR_0147844
    ----see VAR_0147842 T A mis40--------
    VAR_0266284
    ----see VAR_0266282 S Y mis40--------
    VAR_0155594
    ----see VAR_0155592 R S mis40--------

    HapMap Linkage Disequilibrium report for UGT1A6 (234600253 - 234681951 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for UGT1A6 (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv769e199CNV Deletion23128226
    esv2661542CNV Deletion23128226
    esv2721667CNV Deletion23290073
    esv2422005CNV Deletion20811451
    esv2721669CNV Deletion23290073
    esv2721668CNV Deletion23290073
    nsv514125CNV Loss21397061
    nsv433211CNV Loss18776910
    nsv498958CNV Loss21111241
    nsv876017CNV Loss21882294


    Human Gene Mutation Database (HGMD): UGT1A6
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606431    OMIM disorders: --

    20/36 diseases for UGT1A6 (see all 36):    About MalaCards
    drug-induced hepatitis    crigler najjar syndrome, type 2    crigler-najjar syndrome    gilbert syndrome
    cholelithiasis    kernicterus    neonatal jaundice    peptic ulcer
    autoimmune hepatitis    pharyngitis    jaundice    esophageal adenocarcinoma
    sickle cell anemia    diarrhea    familial adenomatous polyposis    neutropenia
    duodenitis    colorectal cancer    cytochrome p450    colon adenocarcinoma

    7 diseases from the University of Copenhagen DISEASES database for UGT1A6:
    Bilirubin metabolic disorder     Neonatal jaundice     Neutropenia     Diarrhea
    Colorectal cancer     Kernicterus     Cholelithiasis

    UGT1A6 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for UGT1A6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    colon carcinoma 48.6 4 9762354 (1), 10220484 (1), 9466822 (1), 19831498 (1)
    colon adenocarcinoma 24.2 1 15826610 (1)
    adenoma 18.5 9 17085674 (5), 19437564 (3), 16797247 (1)
    lung carcinoma 9.04 1 9466822 (1)
    tumors 2.04 3 15709193 (1), 17085674 (1), 19448967 (1)
    colorectal cancer 0 4 16797247 (4)

    Genetic Association Database (GAD): UGT1A6
    Human Genome Epidemiology (HuGE) Navigator: UGT1A6 (51 documents)

    Export disorders for UGT1A6 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 UGT1A6 gene, integrated from 9 sources (see all 215):
    (articles sorted by number of sources associating them with UGT1A6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human UGT1A6 pharmacogenetics: identification of a novel SNP, characterization of allele frequencies and functional analysis of recombinant allozymes in human liver tissue and in cultured cells. (PubMed id 15284531)1, 2, 4, 9 Nagar S.... Blanchard R.L. (2004)
    2. Analysis of inherited genetic variations at the UGT1 locus in the French-Canadian population. (PubMed id 19204906)1, 2, 4, 9 MAcnard V....Guillemette C. (2009)
    3. A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini. (PubMed id 1339448)1, 2, 3 Ritter J.K....Owens I.S. (1992)
    4. Genetic variants of UGT1A6 influence risk of colorectal adenoma recurrence. (PubMed id 17085674)1, 4, 9 Hubner R.A....Houlston R.S. (2006)
    5. Genetic polymorphisms in UDP-glucuronosyltransferase 1A6 are not associated with NSAIDs-related peptic ulcer haemorrhage. (PubMed id 19799547)1, 4, 9 van Oijen M.G....Drenth J.P. (2009)
    6. Effect of genetic polymorphisms in UDP-glucuronosyltransferase 1A6 (UGT1A6) on acetylsalicylic acid metabolism in healthy female volunteers. (PubMed id 19262071)1, 4, 9 van Oijen M.G....Jansen J.B. (2009)
    7. Interactions between CYP2C9 and UGT1A6 polymorphisms and nonsteroidal anti-inflammatory drugs in colorectal cancer prevention. (PubMed id 16797247)1, 4, 9 Samowitz W.S....Slattery M.L. (2006)
    8. Genetic polymorphism in the human UGT1A6 (planar phenol) UDP- glucuronosyltransferase: pharmacological implications. (PubMed id 9429234)1, 2, 9 Ciotti M.... Owens I.S. (1997)
    9. Characterizing the Effects of Common UGT1A6 and UGT1A1 Polymorphisms on Cis and Trans Resveratrol Glucuronidation. (PubMed id 19406951)1, 4, 9 Iwuchukwu O.F....Nagar S. (2009)
    10. No association between cyclooxygenase-2 and uridine diphosphate glucuronosyltransferase 1A6 genetic polymorphisms and colon cancer risk. (PubMed id 19437564)1, 4, 9 Thompson C.L....Li L. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 54578 HGNC: 12538 AceView: UGT1A1 Ensembl:ENSG00000167165 euGenes: HUgn54578
    ECgene: UGT1A6 Kegg: 54578 H-InvDB: UGT1A6

    (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 UGT1A6 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 UGT1A6 gene:
    Search GeneIP for patents involving UGT1A6

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



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