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

UGT1A4 Gene

protein-coding   GIFtS: 56
GCID: GC02P234627

UDP Glucuronosyltransferase 1 Family, Polypeptide A4

(Previous names: UDP glycosyltransferase 1 family, polypeptide A4)
  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 A41 2     EC 2.4.1.173 8
UGT1D2 3 5     HUG-BR22
UDP Glycosyltransferase 1 Family, Polypeptide A41 2     UDPGT2
Bilirubin-Specific UDPGT Isozyme 22 3     Bilirubin UDP-Glucuronosyltransferase Isozyme 22
UGT-1D2 3     UDP-Glucuronosyltransferase 1-42
UGT1-042 3     GNT13
UGT1.42 3     UGT13
UDP-Glucuronosyltransferase 1-D2 3     UGT1*43
UDP-Glucuronosyltransferase 1A42 3     hUG-BR23
UDPGT 1-42 3     

External Ids:    HGNC: 125361   Entrez Gene: 546572   Ensembl: ENSG000002444747   OMIM: 6064295   UniProtKB: P223103   

Export aliases for UGT1A4 gene to outside databases

Previous GC identifers: GC02U990252 GC02P234817 GC02P234880 GC02P234365 GC02P234409 GC02P234195 GC02P234205 GC02P234215 GC02P234292 GC02P226427


(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 UGT1A4 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. This enzyme has some glucuronidase activity towards
bilirubin, although is is more active on amines, steroids, and sapogenins. (provided by RefSeq, Jul 2008)

GeneCards Summary for UGT1A4 Gene: 
UGT1A4 (UDP glucuronosyltransferase 1 family, polypeptide A4) is a protein-coding gene. Diseases associated with UGT1A4 include crigler najjar syndrome, type 2, and crigler-najjar syndrome, 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: UD14_HUMAN, P22310
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

Gene Wiki entry for UGT1A4 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 UGT1A4 gene promoter:
         STAT5B   STAT1   p53   STAT4   STAT2   STAT3   STAT1beta   STAT5A   STAT1alpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for UGT1A4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UGT1A4


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

UGT1A4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UGT1A4 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P234627:  view genomic region     (about GC identifiers)

Start:
234,627,424 bp from pter      End:
234,681,945 bp from pter
Size:
54,522 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: UD14_HUMAN, P22310 (See protein sequence)
Recommended Name: UDP-glucuronosyltransferase 1-4 precursor  
Size: 534 amino acids; 60025 Da
Subcellular location: Microsome. Endoplasmic reticulum membrane; Single-pass membrane protein (Potential)
Secondary accessions: B2R937 Q5DT00
Alternative splicing: 1 isoform:  P22310-1   

Explore the universe of human proteins at neXtProt for UGT1A4: NX_P22310

Explore proteomics data for UGT1A4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P22310

  • 4/20 DME Specific Peptides for UGT1A4 (P22310) (see all 20)
     FWVEFVM  QYHSLDV  DVIGFLL  AAHDLTW 

    UGT1A4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UGT1A4 Protein Expression
    REFSEQ proteins: NP_009051.1  
    ENSEMBL proteins: 
     ENSP00000362508   ENSP00000408608  
    Reactome Protein details: P22310
    Human Recombinant Protein Products for UGT1A4: 
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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:0005783endoplasmic reticulum TAS1898728
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--

    UGT1A4 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 P22310

    ProtoNet protein and cluster: P22310

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

    UniProtKB/Swiss-Prot: UD14_HUMAN, P22310
    Similarity: Belongs to the UDP-glycosyltransferase family


    UGT1A4 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: UD14_HUMAN, P22310
    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
    Catalytic activity: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside
    Induction: By phenobarbital

         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 ----
         
    UGT1A4 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 UGT1A4 About   (see all 13)                                                                                              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
    Benzodiazepine Pathway, Pharmacokinetics0.38
    Tamoxifen Pathway, Pharmacokinetics0.68
    3Biological oxidations
    Biological oxidations0.55
    metapathway biotransformation0.41
    Phase II conjugation0.55
    4Nicotine Pathway, Pharmacokinetics
    Nicotine Pathway, Pharmacokinetics0.60
    Nicotine metabolism0.60
    5Metabolism
    Metabolism0.40
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for UGT1A4
        2-Naphthylamine and 2-Nitronaphtalene metabolism


    1 GeneGo (Thomson Reuters) Pathway for UGT1A4
        2-Naphthylamine and 2-Nitronaphtalene metabolism

    5/7 BioSystems Pathways for UGT1A4 (see all 7)
        Glucuronidation
    nicotine degradation IV
    nicotine degradation III
    Tamoxifen metabolism
    Arylamine metabolism


    4        Reactome Pathways for UGT1A4
        Metabolism
    Biological oxidations
    Phase II conjugation
    Glucuronidation

    5/7 PharmGKB Pathways for UGT1A4 (see all 7)
        Benzodiazepine Pathway, Pharmacokinetics
    Estrogen Metabolism Pathway
    Irinotecan Pathway, Pharmacodynamics
    Nicotine Pathway, Pharmacokinetics
    Phenytoin Pathway, Pharmacokinetics

    5/11         Kegg Pathways  (Kegg details for UGT1A4) (see all 11):
        Pentose and glucuronate interconversions
    Ascorbate and aldarate metabolism
    Steroid hormone biosynthesis
    Starch and sucrose metabolism
    Retinol metabolism


    UGT1A4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UGT1A4

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

    5/57 Interacting proteins for UGT1A4 (ENSP000003625084) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADH1BENSP000003066064STRING: ENSP00000306606
    ADH4ENSP000002655124STRING: ENSP00000265512
    AKR1C4ENSP000002631264STRING: ENSP00000263126
    BLVRAENSP000002655234STRING: ENSP00000265523
    CES2ENSP000003178424STRING: ENSP00000317842
    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 ----
    GO:0030259lipid glycosylation ----
    GO:0044281small molecule metabolic process TAS--

    UGT1A4 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

    UGT1A4 for compounds           About GeneDecksing

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

    Browse Tocris compounds for UGT1A4 (UD14)

    10/86 HMDB Compounds for UGT1A4 (see all 86)    About this table
    CompoundSynonyms CAS #PubMed Ids
    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
    Cotinineglucuronidecotinine-glucuronide (see all 4)139427-57-914570768
    Ethyl glucuronide 17685-04-016139098
    Hydroxycotinine(3R-trans)-3-hydroxy-1-methyl-5-(3-pyridinyl)-2-Pyrrolidinone (see all 5)34834-67-815470160
    Nicotine glucuronide(S)-1-alpha-D-glucopyranuronosyl-3-(1-methyl-2-pyrrolidinyl)-Pyridinium inner salt (see all 11)152306-59-714570768
    Retinyl beta-glucuronideRetinyl b-glucuronide (see all 2)--8600986
    trans-3-Hydroxycotinine glucuronide3'-Hydroxycotnine-glucuronide (see all 3)132929-88-514570768
    (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--

    10 DrugBank Compounds for UGT1A4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    LamotrigineGW 273293 (see all 3)84057-84-1enzymesubstrate19546240 19845433 19387891
    TrifluoperazineTrifluoperazin (see all 13)117-89-5enzymesubstrate19487247 16381668 17620344
    Asenapine-- 65576-45-6enzymesubstrate23356509
    Clozapine-- 5786-21-0enzymesubstrate19515014
    Ezogabine D-23129 (see all 5)150812-12-7enzymesubstrate10220490
    MidazolamDea No. 2884 (see all 4)59467-70-8enzymesubstrate18256203
    TamoxifenICI-46474 (see all 3)10540-29-1enzymesubstrate17664247
    Troglitazone-- 97322-87-7enzymesubstrate12433820
    Valproic Acid2-Propylpentanoic Acid (see all 8)99-66-1enzymesubstrate18838507
    Paricalcitol-- 131918-61-1enzymesubstrate--

    10/27 Novoseek inferred chemical compound relationships for UGT1A4 gene (see all 27)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    n-hydroxy-n'-acetylbenzidine 88.9 1 10506112 (1)
    n-acetylbenzidine 82.5 1 10506112 (1)
    uridine diphosphate 81.9 3 17430308 (1), 18161889 (1), 9733664 (1)
    glucuronide 81.2 4 17359941 (1), 11560872 (1), 11408353 (1)
    n-hydroxy phip 75.5 3 11375903 (1), 11408353 (1)
    imipramine 71.3 19 16626519 (7), 12019188 (4), 12433823 (1), 12386132 (1) (see all 7)
    lamotrigine 69.8 5 17430308 (1), 19487247 (1), 17151188 (1), 19546240 (1)
    2-naphthylamine 68.3 1 7628292 (1)
    benzidine 65.2 2 12351142 (1), 7628292 (1)
    trifluoperazine 64.2 6 19487247 (2), 12019188 (1), 12167564 (1), 17620344 (1)

    Search CenterWatch for drugs/clinical trials and news about UGT1A4 / UD14

    (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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    About This Section

    REFSEQ mRNAs for UGT1A4 gene: 
    NM_007120.2  

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373409(uc002vux.3) ENST00000450233(uc010zna.1)
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    24/271 AceView cDNA sequences (see all 271):

    AY435136 CB157019 AI566081 AY435137 AY435141 AI767337 AV650286 NM_000463 
    BC053576 NM_019075 BE463503 NM_001072 AY435140 AV660038 BC043491 AY435142 
    AI478649 NM_021027 AV646429 NM_007120 AY435143 AI479279 BE464379 BE464186 

    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

    UGT1A4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    UGT1A4 Expression
    About this image


    See UGT1A4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UGT1A4

    UniProtKB/Swiss-Prot: UD14_HUMAN, P22310
    Tissue specificity: Expressed in liver. Not expressed in skin or kidney

        SABiosciences Expression via Pathway-Focused PCR Array including UGT1A4: 
              Drug Metabolism: Phase II Enzymes in human mouse rat

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    In Situ
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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 UGT1A4 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ugt1a51 UDP glucuronosyltransferase 1 family, polypeptide A5 78.16(n)
    76.33(a)
      394433  NM_201643.2  NP_964005.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    60(a)
    1 → many
    1(118864159-118904238)
    zebrafish
    (Danio rerio)
    Actinopterygii ugt1ab6
    ugt1b46
    UDP glucuronosyltransferase 1 family a, b
    UDP glucuronosyltransferase 1 family, polypeptide ...
    50(a)
    45(a)
    many ↔ many
    many ↔ many
    9(10194767-10228512)
    11(31171792-31204741)


    ENSEMBL Gene Tree for UGT1A4 (if available)
    TreeFam Gene Tree for UGT1A4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UGT1A4 gene
    UGT2A22  UGT1A82  UGT3A12  UGT1A72  UGT2B112  UGT2B72  UGT1A32  UGT1A12  
    UGT3A22  UGT1A52  UGT2B102  UGT2A12  UGT1A102  UGT1A62  UGT82  UGT2B152  
    UGT2B42  UGT2A32  UGT2B172  UGT2B282  UGT1A92  
    18/30 SIMAP similar genes for UGT1A4 using alignment to 14 protein entries:     UD14_HUMAN (see all proteins) (see all similar genes):
    UGT1A4S    UGT1A3S    UGT1A5    UGT1A3    UGT1A9S    UGT1
    UGT1A1    BILIQTL1    UGT1A8S    UGT1A6    UGT1A10    UGT2B11
    UGT1A6S    UGT2B17    UGT1A8    UGT1A9    UGT2B28    UGT2A3

    UGT1A4 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

    9 SNPs in UGT1A4 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_0077114
    Crigler-Najjar syndrome 1 (CN1)4--see VAR_0077112 S F mis40--------
    VAR_0077104
    Crigler-Najjar syndrome 2 (CN2)4--see VAR_0077102 Q R mis40--------
    VAR_0095064
    Crigler-Najjar syndrome 2 (CN2)4--see VAR_0095062 L P mis40--------
    VAR_0095074
    Crigler-Najjar syndrome 2 (CN2)4--see VAR_0095072 Y D mis40--------
    VAR_0246844
    ----see VAR_0246842 P T mis40--------
    VAR_0524544
    ----see VAR_0524542 I F mis40--------
    VAR_0585844
    ----see VAR_0585842 L V mis40--------
    VAR_0618704
    ----see VAR_0618702 H Y mis40--------
    VAR_0598444
    ----see VAR_0598442 R W mis40--------

    HapMap Linkage Disequilibrium report for UGT1A4 (234627424 - 234681945 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 variations for UGT1A4 (see all 14):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv769e199CNV Deletion23128226
    esv2661542CNV Deletion23128226
    esv2721669CNV Deletion23290073
    esv2422005CNV Deletion20811451
    esv2721668CNV Deletion23290073
    esv2721667CNV Deletion23290073
    nsv498958CNV Loss21111241
    esv8142CNV Loss19470904
    nsv519815CNV Loss19592680
    nsv3215CNV Loss18451855


    Human Gene Mutation Database (HGMD): UGT1A4
    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: 606429    OMIM disorders: --

    UniProtKB/Swiss-Prot: UD14_HUMAN, P22310
  • 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
  • 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

  • 20 diseases for UGT1A4:    About MalaCards
    crigler najjar syndrome, type 2    crigler-najjar syndrome    gilbert syndrome    kernicterus
    neonatal jaundice    jaundice    esophageal adenocarcinoma    cholelithiasis
    sickle cell anemia    familial adenomatous polyposis    duodenitis    cytochrome p450
    metabolic disorders    liver disease    schizophrenia    anemia
    esophagitis    adenocarcinoma    lung cancer    hepatitis

    2 diseases from the University of Copenhagen DISEASES database for UGT1A4:
    Bilirubin metabolic disorder     Kernicterus

    UGT1A4 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for UGT1A4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    crigler-najjar syndrome 81.8 2 2108190 (1), 1920916 (1)
    gilberts syndrome 57.4 2 12012638 (1), 1920916 (1)

    Genetic Association Database (GAD): UGT1A4
    Human Genome Epidemiology (HuGE) Navigator: UGT1A4 (22 documents)

    Export disorders for UGT1A4 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 UGT1A4 gene, integrated from 9 sources (see all 130):
    (articles sorted by number of sources associating them with UGT1A4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. UDP-glucuronosyltransferase 1A4 polymorphisms in a Japanese population and kinetics of clozapine glucuronidation. (PubMed id 15708967)1, 4, 9 Mori A....Takeuchi Y. (2005)
    4. Identification of defect in the genes for bilirubin UDP-glucuronosyl- transferase in a patient with Crigler-Najjar syndrome type II. (PubMed id 8280139)1, 2, 9 Aono S.... Koiwai O. (1993)
    5. Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells. (PubMed id 1898728)1, 2, 9 Ritter J.K.... Owens I.S. (1991)
    6. Variation of hepatic glucuronidation: Novel functional polymorphisms of the UDP-glucuronosyltransferase UGT1A4. (PubMed id 15057901)1, 4, 9 Ehmer U....Strassburg C.P. (2004)
    7. Detoxification enzyme polymorphisms are not involved in duodenal adenomatosis in familial adenomatous polyposis. (PubMed id 18161889)1, 4, 9 Berkhout M....Peters W.H. (2008)
    8. Urinary excretion of phenytoin metabolites, 5-(4'-hydroxyphenyl)-5-phenylhydantoin and its O-glucuronide in humans and analysis of genetic polymorphisms of UDP-glucuronosyltransferases. (PubMed id 15855726)1, 4, 9 Yamanaka H....Yokoi T. (2005)
    9. UGT1A1 is a major locus influencing bilirubin levels i n African Americans. (PubMed id 22085899)1, 4 Chen G....Rotimi C.N. (2012)
    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
    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: 54657 HGNC: 12536 AceView: UGT1A1 Ensembl:ENSG00000244474 euGenes: HUgn54657
    ECgene: UGT1A4 Kegg: 54657 H-InvDB: UGT1A4

    (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 UGT1A4 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 UGT1A4 gene:
    Search GeneIP for patents involving UGT1A4

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



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