LOCUS       NM_007120               2431 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens UDP glucuronosyltransferase family 1 member A4
            (UGT1A4), mRNA.
ACCESSION   NM_007120
VERSION     NM_007120.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2431)
  AUTHORS   Zhao,T., Zhang,H.L., Feng,J., Cui,L., Sun,L., Li,H.J. and Yu,L.H.
  TITLE     Impact of UGT1A4 and UGT2B7 polymorphisms on lamotrigine plasma
            concentration in patients with bipolar disorder
  JOURNAL   Pharmacogenet Genomics 34 (8), 261-267 (2024)
   PUBMED   39171428
  REMARK    GeneRIF: Impact of UGT1A4 and UGT2B7 polymorphisms on lamotrigine
            plasma concentration in patients with bipolar disorder.
REFERENCE   2  (bases 1 to 2431)
  AUTHORS   Bozina,N., Sporis,I.S., Domjanovic,I.K., Ganoci,L., Simicevic,L.,
            Lovric,M., Romic,Z.C., Gadze,Z.P. and Trkulja,V.
  TITLE     Bearing variant alleles at uridine glucuronosyltransferase
            polymorphisms UGT2B7 -161C > T (rs7668258) or UGT1A4*3 c.142 T > G
            (rs2011425) has no relevant consequences for lamotrigine troughs in
            adults with epilepsy
  JOURNAL   Eur J Clin Pharmacol 79 (8), 1117-1129 (2023)
   PUBMED   37340142
  REMARK    GeneRIF: Bearing variant alleles at uridine glucuronosyltransferase
            polymorphisms UGT2B7 -161C > T (rs7668258) or UGT1A4*3 c.142 T > G
            (rs2011425) has no relevant consequences for lamotrigine troughs in
            adults with epilepsy.
REFERENCE   3  (bases 1 to 2431)
  AUTHORS   Acosta,L., Byham-Gray,L., Kurzer,M. and Samavat,H.
  TITLE     Hepatotoxicity with High-Dose Green Tea Extract: Effect of
            Catechol-O-Methyltransferase and Uridine
            5'-Diphospho-glucuronosyltransferase 1A4 Genotypes
  JOURNAL   J Diet Suppl 20 (6), 850-869 (2023)
   PUBMED   36178169
  REMARK    GeneRIF: Hepatotoxicity with High-Dose Green Tea Extract: Effect of
            Catechol-O-Methyltransferase and Uridine
            5'-Diphospho-glucuronosyltransferase 1A4 Genotypes.
REFERENCE   4  (bases 1 to 2431)
  AUTHORS   Zhu,J., Liu,W., Zhang,M., Lu,L., Pan,H., He,X., Wang,N., Yang,M.,
            Yi,H. and Tang,S.
  TITLE     A validation study of the UGT1A4 rs2011404 variant and the risk of
            anti-tuberculosis drug-induced hepatotoxicity in an Eastern Chinese
            Han population
  JOURNAL   J Clin Pharm Ther 46 (5), 1288-1294 (2021)
   PUBMED   34046917
  REMARK    GeneRIF: A validation study of the UGT1A4 rs2011404 variant and the
            risk of anti-tuberculosis drug-induced hepatotoxicity in an Eastern
            Chinese Han population.
REFERENCE   5  (bases 1 to 2431)
  AUTHORS   Bojanic,K., Kuna,L., Bilic Curcic,I., Wagner,J., Smolic,R.,
            Kralik,K., Kizivat,T., Ivanac,G., Vcev,A., Wu,G.Y. and Smolic,M.
  TITLE     Representation of CYP3A4, CYP3A5 and UGT1A4 Polymorphisms within
            Croatian Breast Cancer Patients' Population
  JOURNAL   Int J Environ Res Public Health 17 (10), 3692 (2020)
   PUBMED   32456253
  REMARK    GeneRIF: Representation of CYP3A4, CYP3A5 and UGT1A4 Polymorphisms
            within Croatian Breast Cancer Patients' Population.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2431)
  AUTHORS   Aono,S., Yamada,Y., Keino,H., Hanada,N., Nakagawa,T., Sasaoka,Y.,
            Yazawa,T., Sato,H. and Koiwai,O.
  TITLE     Identification of defect in the genes for bilirubin
            UDP-glucuronosyl-transferase in a patient with Crigler-Najjar
            syndrome type II
  JOURNAL   Biochem Biophys Res Commun 197 (3), 1239-1244 (1993)
   PUBMED   8280139
REFERENCE   7  (bases 1 to 2431)
  AUTHORS   Moghrabi,N., Clarke,D.J., Boxer,M. and Burchell,B.
  TITLE     Identification of an A-to-G missense mutation in exon 2 of the UGT1
            gene complex that causes Crigler-Najjar syndrome type 2
  JOURNAL   Genomics 18 (1), 171-173 (1993)
   PUBMED   8276413
REFERENCE   8  (bases 1 to 2431)
  AUTHORS   Bosma,P.J., Chowdhury,J.R., Huang,T.J., Lahiri,P., Elferink,R.P.,
            Van Es,H.H., Lederstein,M., Whitington,P.F., Jansen,P.L. and
            Chowdhury,N.R.
  TITLE     Mechanisms of inherited deficiencies of multiple
            UDP-glucuronosyltransferase isoforms in two patients with
            Crigler-Najjar syndrome, type I
  JOURNAL   FASEB J 6 (10), 2859-2863 (1992)
   PUBMED   1634050
REFERENCE   9  (bases 1 to 2431)
  AUTHORS   Ritter,J.K., Chen,F., Sheen,Y.Y., Tran,H.M., Kimura,S.,
            Yeatman,M.T. and Owens,I.S.
  TITLE     A novel complex locus UGT1 encodes human bilirubin, phenol, and
            other UDP-glucuronosyltransferase isozymes with identical carboxyl
            termini
  JOURNAL   J Biol Chem 267 (5), 3257-3261 (1992)
   PUBMED   1339448
REFERENCE   10 (bases 1 to 2431)
  AUTHORS   Ritter,J.K., Crawford,J.M. and Owens,I.S.
  TITLE     Cloning of two human liver bilirubin UDP-glucuronosyltransferase
            cDNAs with expression in COS-1 cells
  JOURNAL   J Biol Chem 266 (2), 1043-1047 (1991)
   PUBMED   1898728
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC114812.5, M57951.1,
            AY435139.1 and AC006985.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_007120.2.
            
            Summary: 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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DRR138515.319683.1,
                                           DRR138522.654359.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144335, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373409.8/ ENSP00000362508.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-56                AC114812.5         44726-44781
            57-85               M57951.1           1-29
            86-2430             AY435139.1         1-2345
            2431-2431           AC006985.2         53143-53143         c
FEATURES             Location/Qualifiers
     source          1..2431
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..2431
                     /gene="UGT1A4"
                     /gene_synonym="GNT1; hUG-BR1; HUG-BR2; UDPGT; UDPGT 1-4;
                     UGT-1A; UGT-1D; UGT1; UGT1-01; UGT1-04; UGT1.1; UGT1.4;
                     UGT1A; UGT1A1; UGT1A4S; UGT1D"
                     /note="UDP glucuronosyltransferase family 1 member A4"
                     /db_xref="GeneID:54657"
                     /db_xref="HGNC:HGNC:12536"
                     /db_xref="MIM:606429"
     exon            1..952
                     /gene="UGT1A4"
                     /gene_synonym="GNT1; hUG-BR1; HUG-BR2; UDPGT; UDPGT 1-4;
                     UGT-1A; UGT-1D; UGT1; UGT1-01; UGT1-04; UGT1.1; UGT1.4;
                     UGT1A; UGT1A1; UGT1A4S; UGT1D"
                     /inference="alignment:Splign:2.1.0"
     CDS             86..1690
                     /gene="UGT1A4"
                     /gene_synonym="GNT1; hUG-BR1; HUG-BR2; UDPGT; UDPGT 1-4;
                     UGT-1A; UGT-1D; UGT1; UGT1-01; UGT1-04; UGT1.1; UGT1.4;
                     UGT1A; UGT1A1; UGT1A4S; UGT1D"
                     /EC_number="2.4.1.17"
                     /note="UDP glycosyltransferase 1 family, polypeptide A4;
                     bilirubin UDP-glucuronosyltransferase isozyme 2;
                     UDP-glucuronosyltransferase 1-4;
                     UDP-glucuronosyltransferase 1-1; UDPGT 1-1;
                     Bilirubin-specific UDPGT isozyme 1;
                     UDP-glucuronosyltransferase 1-A;
                     UDP-glucuronosyltransferase 1A1;
                     UDP-glucuronosyltransferase 1A4; UDP
                     glucuronosyltransferase 1 family, polypeptide A4;
                     bilirubin-specific UDPGT isozyme 2;
                     UDP-glucuronosyltransferase 1-D;
                     UDP-glucuronosyltransferase 1 family polypeptide A4s"
                     /codon_start=1
                     /product="UDP-glucuronosyltransferase 1A4 precursor"
                     /protein_id="NP_009051.1"
                     /db_xref="CCDS:CCDS33405.1"
                     /db_xref="GeneID:54657"
                     /db_xref="HGNC:HGNC:12536"
                     /db_xref="MIM:606429"
                     /translation="MARGLQVPLPRLATGLLLLLSVQPWAESGKVLVVPTDGSPWLSM
                     REALRELHARGHQAVVLTPEVNMHIKEEKFFTLTAYAVPWTQKEFDRVTLGYTQGFFE
                     TEHLLKRYSRSMAIMNNVSLALHRCCVELLHNEALIRHLNATSFDVVLTDPVNLCGAV
                     LAKYLSIPAVFFWRYIPCDLDFKGTQCPNPSSYIPKLLTTNSDHMTFLQRVKNMLYPL
                     ALSYICHTFSAPYASLASELFQREVSVVDLVSYASVWLFRGDFVMDYPRPIMPNMVFI
                     GGINCANGKPLSQEFEAYINASGEHGIVVFSLGSMVSEIPEKKAMAIADALGKIPQTV
                     LWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMM
                     PLFGDQMDNAKRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKD
                     RPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVAFITF
                     KCCAYGYRKCLGKKGRVKKAHKSKTH"
     exon            953..1084
                     /gene="UGT1A4"
                     /gene_synonym="GNT1; hUG-BR1; HUG-BR2; UDPGT; UDPGT 1-4;
                     UGT-1A; UGT-1D; UGT1; UGT1-01; UGT1-04; UGT1.1; UGT1.4;
                     UGT1A; UGT1A1; UGT1A4S; UGT1D"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1172
                     /gene="UGT1A4"
                     /gene_synonym="GNT1; hUG-BR1; HUG-BR2; UDPGT; UDPGT 1-4;
                     UGT-1A; UGT-1D; UGT1; UGT1-01; UGT1-04; UGT1.1; UGT1.4;
                     UGT1A; UGT1A1; UGT1A4S; UGT1D"
                     /inference="alignment:Splign:2.1.0"
     exon            1173..1392
                     /gene="UGT1A4"
                     /gene_synonym="GNT1; hUG-BR1; HUG-BR2; UDPGT; UDPGT 1-4;
                     UGT-1A; UGT-1D; UGT1; UGT1-01; UGT1-04; UGT1.1; UGT1.4;
                     UGT1A; UGT1A1; UGT1A4S; UGT1D"
                     /inference="alignment:Splign:2.1.0"
     exon            1393..2431
                     /gene="UGT1A4"
                     /gene_synonym="GNT1; hUG-BR1; HUG-BR2; UDPGT; UDPGT 1-4;
                     UGT-1A; UGT-1D; UGT1; UGT1-01; UGT1-04; UGT1.1; UGT1.4;
                     UGT1A; UGT1A1; UGT1A4S; UGT1D"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2411..2416
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT1A4"
                     /gene_synonym="GNT1; hUG-BR1; HUG-BR2; UDPGT; UDPGT 1-4;
                     UGT-1A; UGT-1D; UGT1; UGT1-01; UGT1-04; UGT1.1; UGT1.4;
                     UGT1A; UGT1A1; UGT1A4S; UGT1D"
                     /note="hexamer: AATAAA"
     polyA_site      2431
                     /gene="UGT1A4"
                     /gene_synonym="GNT1; hUG-BR1; HUG-BR2; UDPGT; UDPGT 1-4;
                     UGT-1A; UGT-1D; UGT1; UGT1-01; UGT1-04; UGT1.1; UGT1.4;
                     UGT1A; UGT1A1; UGT1A4S; UGT1D"
                     /note="major polyA site"
ORIGIN      
        1 aatgacaagg taattaaggc gaaggaaaca aatgtagcag gcacagcgtg gggtggacag
       61 tcagctgtcg gtggcttctg ctgagatggc cagaggactc caggttcccc tgccgcggct
      121 ggccacagga ctgctgctcc tcctcagtgt ccagccctgg gctgagagtg gaaaggtgtt
      181 ggtggtgccc actgatggca gcccctggct cagcatgcgg gaggccttgc gggagctcca
      241 tgccagaggc caccaggcgg tggtcctcac cccagaggtg aatatgcaca tcaaagaaga
      301 gaaatttttc accctgacag cctatgctgt tccatggacc cagaaggaat ttgatcgcgt
      361 tacgctgggc tacactcaag ggttctttga aacagaacat cttctgaaga gatattctag
      421 aagtatggca attatgaaca atgtatcttt ggcccttcat aggtgttgtg tggagctact
      481 gcataatgag gccctgatca ggcacctgaa tgctacttcc tttgatgtgg ttttaacaga
      541 ccccgttaac ctctgtgggg cggtgctggc taagtacctg tcgattcctg ctgtgttttt
      601 ttggaggtac attccatgtg acttagactt taagggcaca cagtgtccaa atccttcctc
      661 ctatattcct aagttactaa cgaccaattc agaccacatg acattcctgc aaagggtcaa
      721 gaacatgctc taccctctgg ccctgtccta catttgccat actttttctg ccccttatgc
      781 aagtcttgcc tctgagcttt ttcagagaga ggtgtcagtg gtggatcttg tcagctatgc
      841 atccgtgtgg ctgttccgag gggactttgt gatggactac cccaggccga tcatgcccaa
      901 catggtcttc attgggggca tcaactgtgc caacgggaag ccactatctc aggaatttga
      961 agcctacatt aatgcttctg gagaacatgg aattgtggtt ttctctttgg gatcaatggt
     1021 ctcagaaatt ccagagaaga aagctatggc aattgctgat gctttgggca aaatccctca
     1081 gacagtcctg tggcggtaca ctggaacccg accatcgaat cttgcgaaca acacgatact
     1141 tgttaagtgg ctaccccaaa acgatctgct tggtcacccg atgacccgtg cctttatcac
     1201 ccatgctggt tcccatggtg tttatgaaag catatgcaat ggcgttccca tggtgatgat
     1261 gcccttgttt ggtgatcaga tggacaatgc aaagcgcatg gagactaagg gagctggagt
     1321 gaccctgaat gttctggaaa tgacttctga agatttagaa aatgctctaa aagcagtcat
     1381 caatgacaaa agttacaagg agaacatcat gcgcctctcc agccttcaca aggaccgccc
     1441 ggtggagccg ctggacctgg ccgtgttctg ggtggagttt gtgatgaggc acaagggcgc
     1501 gccacacctg cgccccgcag cccacgacct cacctggtac cagtaccatt ccttggacgt
     1561 gattggtttc ctcttggccg tcgtgctgac agtggccttc atcaccttta aatgttgtgc
     1621 ttatggctac cggaaatgct tggggaaaaa agggcgagtt aagaaagccc acaaatccaa
     1681 gacccattga gaagtgggtg ggaaataagg taaaattttg aaccattccc tagtcatttc
     1741 caaacttgaa aacagaatca gtgttaaatt cattttattc ttattaagga aatactttgc
     1801 ataaattaat cagccccaga gtgctttaaa aaattctctt aaataaaaat aatagactcg
     1861 ctagtcagta aagatatttg aatatgtatc gtgccccctc tggtgtcttt gatcaggatg
     1921 acatgtgcca tttttcagag gacgtgcaga caggctggca ttctagatta cttttcttac
     1981 tctgaaacat ggcctgtttg ggagtgcggg attcaaaggt ggtcccacgg ctgcccctac
     2041 tgcaaatggc agttttaatc ttatcttttg gcttctgcag atggttgcaa ttgatcctta
     2101 accaataatg gtcagtcctc atctctgtcg tgcttcatag gtgccacctt gtgtgtttaa
     2161 agaagggaag ctttgtacct ttagagtgta ggtgaaatga atgaatggct tggagtgcac
     2221 tgagaacagc atatgatttc ttgctttggg gaaaaagaat gatgctatga aattggtggg
     2281 tggtgtattt gagaagataa tcattgctta tgtcaaatgg agctgaattt gataaaaacc
     2341 caaaatacag ctatgaagtg ctgggcaagt ttactttttt tctgatgttt cctacaacta
     2401 aaaataaatt aataaattta tataaattct a
//
