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UGT1A4 Gene

protein-coding   GIFtS: 47

GC02P226427
UDP glucuronosyltransferase 1 family, polypeptide A4
(Previous names: UDP glycosyltransferase 1 family, polypeptide A4 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

Aliases &
Descriptions
for UGT1A4 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases & Descriptions
UDP glucuronosyltransferase 1 family, polypeptide A41 2     UGT-1D2 3
UGT1D1 2 3 5     OTTHUMP000000651992
UDP glycosyltransferase 1 family, polypeptide A41 2     UDPGT2
HUG-BR21 2     OTTHUMP000001994482
Bilirubin-specific UDPGT isozyme 22 3     UDP-glucuronosyltransferase 1-42
UGT1-042 3     bilirubin UDP-glucuronosyltransferase isozyme 22
UDP-glucuronosyltransferase 1-D2 3     GNT13
UDP-glucuronosyltransferase 1A42 3     EC 2.4.1.173
UDPGT 1-42 3     UGT13
UGT1*42 3     hUG-BR23
UGT1.42 3     

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

Export aliases for UGT1A4 gene to outside databases

Previous GC identifers: GC02U990252 GC02P234817 GC02P234880 GC02P234365 GC02P234409 GC02P234195 GC02P234205 GC02P234215 GC02P234292 GC02P234627


Summaries
for UGT1A4 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for UGT1A4:
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)

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

Genomic Views
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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UGT1A4 gene promoter:
         HNF-4alpha2   COUP-TF1   Sp1   HNF-1A   FOXO4   Pax-2   GR-beta   GR-alpha   SRF   AP-2rep   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for UGT1A4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


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 gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P226427:  view genomic region     (about GC identifiers)

Start:
 226,427,432 bp from pter
End:
 226,481,779 bp from pter
Size:
 54,348 bases
Orientation:
 plus strand

1 alternative location:
Chr2+ 234,627,424-234,681,945     

Proteins
for UGT1A4 gene

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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
Alternative splicing: 1 isoform:  P22310-1   (A number of isoforms are produced. The different isozymes have a different N-terminal domain and a common C-terminal domain of 245 residues)

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

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins: NP_009051.1  

    ENSEMBL proteins: 
    ENSP00000408608 ENSP00000362508 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: UGT1A4
    GenScript Custom Purified and Recombinant Proteins Services for UGT1A4 
    Novus Biologicals Protein for UGT1A4
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783 endoplasmic reticulum IEA--
    GO:0005789 endoplasmic reticulum membrane TAS--
    GO:0005792 microsome IEA--
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    UGT1A4 for ontologies           About GeneDecksing



    Antibodies for UGT1A4: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for UGT1A4
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for UGT1A4 
    Browse antibodies at Epitomics

    Assays for UGT1A4: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for UGT1A4 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for UGT1A4 

    Protein Domains/
    Families
    for UGT1A4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    UGT1A4 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002213 UDP_glucos_trans

    Graphical View of Domain Structure for InterPro Entry P22310

    ProtoNet protein and cluster: P22310

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

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


    Gene Function
    for UGT1A4 gene

    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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
    Catalytic activity: UDP-glucuronate + acceptor = UDP + acceptor beta-D-glucuronoside
    Induction: By phenobarbital
    Enzyme Number (IUBMB): EC 2.4.1.17 

    Inhib.
    RNA:            		Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA for UGT1A4
    Sigma-Aldrich shRNA for UGT1A4
    OriGene 29mer shRNA kits in GFP-retroviral vector: UGT1A4
    OriGene shRNA RFP: UGT1A4
    OriGene basic RS shRNA: UGT1A4
    OriGene siRNA: UGT1A4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of UGT1A4 
    miRNA:Sigma-Aldrich microRNA Mimics for UGT1A4
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of UGT1A4 
    Search SABiosciences for Assays for microRNAs that regulate UGT1A4

    Gene
    Editing:    		Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: UGT1A4
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: UGT1A4
    OriGene untagged cDNA clones in CMV expression vector: UGT1A4
    OriGene 3'-UTR clone: UGT1A4 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: UGT1A4 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:          		GenScript Custom overexpressing Cell Line Services for UGT1A4 

    5/6 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 6):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001972NOT retinoic acid binding IDA--
    GO:0015020 glucuronosyltransferase activity TAS--
    GO:0016758 transferase activity, transferring hexosyl groups ----
    GO:0019899 enzyme binding IDA--
    GO:0042803 protein homodimerization activity IPI--
    About this table

    UGT1A4 for ontologies           About GeneDecksing


    Pathways & Interactions
    for UGT1A4 gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    UGT1A4 for pathways           About GeneDecksing

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

    5/6 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  UGT1A4 (see all 6)
        Androgen and Estrogen Metabolism
    Starch and Sucrose Metabolism
    Retinol Metabolism
    Pentose and Glucuronate Interconversions
    Xenobiotic Metabolism Signaling

    5/10 Kegg Pathways  (Kegg details for UGT1A4) (see all 10):
        hsa00040 Pentose and glucuronate interconversions
    hsa00053 Ascorbate and aldarate metabolism
    hsa00140 Steroid hormone biosynthesis
    hsa00500 Starch and sucrose metabolism
    hsa00830 Retinol metabolism

        SABiosciences Pathway-Focused PCR Arrays including UGT1A4: PAHS-003A PAHS-069A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for UGT1A4
        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UGT1A4

    2 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006805 xenobiotic metabolic process TAS--
    GO:0008152 metabolic process IEA--
    About this table

    UGT1A4 for ontologies           About GeneDecksing



    Drugs & Compounds
    for UGT1A4 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    UGT1A4 for compounds           About GeneDecksing

    Sigma-Aldrich Small Molecules for UGT1A4:
    Small Molecule - Inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UGT1A4
    10/27 Novoseek chemical compound relationships for UGT1A4 gene (see all 27)
    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)
    About this table



    Transcripts
    for UGT1A4 gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section
    Inhib.
    RNA:             		Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA for UGT1A4
    Sigma-Aldrich shRNA for UGT1A4
    OriGene 29mer shRNA kits in GFP-retroviral vector: UGT1A4
    OriGene shRNA RFP: UGT1A4
    OriGene basic RS shRNA: UGT1A4
    OriGene siRNA: UGT1A4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of UGT1A4 
    miRNA: Sigma-Aldrich microRNA Mimics for UGT1A4
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of UGT1A4 
    Search SABiosciences for Assays for microRNAs that regulate UGT1A4
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: UGT1A4
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: UGT1A4
    OriGene untagged cDNA clones in CMV expression vector: UGT1A4
    OriGene 3'-UTR Clone: UGT1A4 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: UGT1A4 
    Primers: OriGene genome-wide validated SYBR primer pairs: UGT1A4
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for UGT1A4: PPH01592A

    REFSEQ mRNAs for UGT1A4 gene: 

    NM_007120.2  

    24/271 AceView cDNA sequences (see all 271):

    AY435138 NM_019093 NM_019078 NM_021027 AI701383 NM_205862 AI478649 AV650286 
    AY435139 NM_019075 BE464422 AU076863 CB163341 AY435140 AY435141 BC043491 
    AY435144 AV646429 AK025403 CB163625 AW297730 BG165230 AY435142 BI764371 

    highest scoring ESTs for UGT1A4:

    AA088507 AA088506 BQ327579 T61402 T73284 


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000450233(uc010zna.1) ENST00000373409(uc002vux.2)

    Expression
    for UGT1A4 gene

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    UGT1A4 expression in normal and diseased human tissues

    1  / 2  / 3

    10 probe-sets matching UGT1A4 gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    215125_s_at2, 3 U133-A 9 1.00 0.14 -- -- AV691323 0.20 0.06 0.15 2
    208596_s_at2, 3 U133-A 9 1.00 0.13 -- -- NM_019093 0.20 0.04 0.14 2
    207126_x_at2, 3 U133-A 9 0.82 0.14 -- -- NM_000463 0.20 0.04 0.14 2
    204532_x_at2, 3 U133-A 9 0.82 0.14 -- -- NM_021027 0.20 0.04 0.14 2
    206094_x_at2, 3 U133-A 9 0.82 0.13 -- -- NM_001072 0.20 0.04 0.14 2
    215125_s_at2 U133Plus2 9 1.00 0.14 -- -- -- -- -- -- --
    208596_s_at2 U133Plus2 9 1.00 0.13 -- -- -- -- -- -- --
    207126_x_at2 U133Plus2 9 0.82 0.14 -- -- -- -- -- -- --
    204532_x_at2 U133Plus2 9 0.82 0.14 -- -- -- -- -- -- --
    206094_x_at2 U133Plus2 9 0.82 0.13 -- -- -- -- -- -- --
    About this table
    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    UGT1A4 gene expression
    UGT1A4 gene electronic northern expression
    UGT1A4 gene sage expression
    About these images

    CGAP SAGE TAG: --

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

    Primers: OriGene genome-wide validated SYBR primer pairs: UGT1A4
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for UGT1A4: PPH01592A
        SABiosciences Expression via Pathway-Focused PCR Arrays including UGT1A4: PAHS-003A PAHS-069A 


    Orthologs
    for UGT1A4 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for UGT1A4 gene from 4 species
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    rat
    (Rattus norvegicus)    		 Ugt1a51   -- UDP glucuronosyltransferase 1 family, polypeptide A5 80.31(n)
    76.98(a)    		 574523  NM_001039549.1  NP_001034638.1 
    mouse
    (Mus musculus)    		 Ugt1a51   -- UDP glucuronosyltransferase 1 family, polypeptide A5 78.28(n)
    76.52(a)    		 394433  NM_201643.1  NP_964005.1 
    fruit fly
    (Drosophila melanogaster)    		 Ugt36Ba3 36B1 glucuronosyltransferase 30(a)
    (best of 8)    		   --
    worm
    (Caenorhabditis elegans)    		 C10H11.53 I(4724067-4726765)   -- 29(a)
    (best of 18)    		   --
    About this table        Species with no ortholog for UGT1A4

    ENSEMBL Gene Tree for UGT1A4 (if available)

    Paralogs
    for UGT1A4 gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for UGT1A4 gene
    UGT1A52  UGT2A22  UGT1A82  UGT2B102  UGT1A102  UGT1A62  UGT2B152  UGT1A72  
    UGT2B42  UGT2B72  UGT2B112  UGT2B172  UGT2A32  UGT1A32  UGT1A12  UGT2B282  
    UGT1A92  

    UGT1A4 for paralogs           About GeneDecksing



    Genomic Variants
    for UGT1A4 gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 10 variations for UGT1A4
         10 CNVs: 90342 90341 61892 35795 50416 39282 37520 39281 63332 90340
    QIAGEN SeqTarget long-range PCR primers for resequencing UGT1A4 

    Disorders & Mutations
    for UGT1A4 gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    UGT1A4 for disorders           About GeneDecksing

    OMIM: 606429

    UniProtKB/Swiss-Prot: UD14_HUMAN, P22310
  • Defects in UGT1A4 are the cause of Gilbert syndrome [MIM:143500]. Gilbert syndrome occurs as a consequence of
    • reduced bilirubin transferase activity and is often detected in young adults with vague nonspecific complaints
  • Defects in UGT1A4 are the cause of Crigler-Najjar syndrome type 1 (CN1) [MIM:218800]. CN1 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
  • Defects in UGT1A4 are the cause of Crigler-Najjar syndrome type 2 (CN2) [MIM:606785]. CN2 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

    2 Novoseek disease relationships for UGT1A4 gene

    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)
    About this table

    Human Gene Mutation Database (HGMD): UGT1A4
    Genetic Association Database (GAD): UGT1A4
    Human Genome Epidemiology (HuGE) Navigator: UGT1A4 (21 documents)

    Export disorders and mutations for UGT1A4 gene to outside databases

    Medical News
    for UGT1A4 gene

    (Possibly Related Articles in Doctor's Guide)
    About This Section
    		   --

    Publications
    for UGT1A4 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/103 PubMed articles for UGT1A4 gene, integrated from 7 sources (see all 103):
    (articles sorted by number of sources associating them with UGT1A4)
    1. 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)
    2. UDP-glucuronosyltransferase 1A4 polymorphisms in a Japanese population and kinetics of clozapine glucuronidation. (PubMed id 15708967)1, 4, 7 Mori A....Takeuchi Y. (2005)
    3. 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, 7 Aono S.... Koiwai O. (1993)
    4. Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells. (PubMed id 1898728)1, 2, 7 Ritter J.K.... Owens I.S. (1991)
    5. Variation of hepatic glucuronidation: Novel functional polymorphisms of the UDP-glucuronosyltransferase UGT1A4. (PubMed id 15057901)1, 4, 7 Ehmer U....Strassburg C.P. (2004)
    6. Analysis of inherited genetic variations at the UGT1 locus in the French-Canadian population. (PubMed id 19204906)1, 2, 7 MAcnard V....Guillemette C. (2009)
    7. 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, 7 Yamanaka H....Yokoi T. (2005)
    8. Genetic variations and haplotypes of UGT1A4 in a Japanese population. (PubMed id 15855727)1, 4 Saeki M....Sawada J. (2005)
    9. Correlation between UDP-glucuronosyltransferase genotypes and 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone glucuronidation phenotype in human liver microsomes. (PubMed id 14871856)1, 4 Wiener D....Lazarus P. (2004)
    10. Thirteen UDPglucuronosyltransferase genes are encoded at the human UGT1 gene complex locus. (PubMed id 11434514)1, 2 Gong Q.H....Popescu N.C. (2001)

    External Searches for UGT1A4 gene

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    Genome Databases showing UGT1A4 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54657 HGNC: 12536 AceView: UGT1A1 Ensembl:ENSG00000244474 euGenes: HUgn54657
    ECgene: UGT1A4 Kegg: 54657 H-InvDB: UGT1A4

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    Intellectual Property
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