LOCUS       NM_000463               2361 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens UDP glucuronosyltransferase family 1 member A1
            (UGT1A1), mRNA.
ACCESSION   NM_000463
VERSION     NM_000463.3
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 2361)
  AUTHORS   Liu,X., Zhang,C., Chen,L., Liu,S. and Zhou,Z.
  TITLE     UGT1A1 and BLVRA allele and genotype variants in neonatal patients
            with hyperbilirubinemia in southern China
  JOURNAL   Sci Rep 14 (1), 25744 (2024)
   PUBMED   39468242
  REMARK    GeneRIF: UGT1A1 and BLVRA allele and genotype variants in neonatal
            patients with hyperbilirubinemia in southern China.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2361)
  AUTHORS   Wu,L., Li,Z., Song,Y., Li,Y., Zhang,W., Zhong,X., Wang,X., Huang,J.
            and Ou,X.
  TITLE     Analysis of UGT1A1 genotype-phenotype correlation in Chinese
            patients with gilbert and crigler-Najjar II syndrome
  JOURNAL   Eur J Med Genet 71, 104962 (2024)
   PUBMED   39069255
  REMARK    GeneRIF: Analysis of UGT1A1 genotype-phenotype correlation in
            Chinese patients with gilbert and crigler-Najjar II syndrome.
REFERENCE   3  (bases 1 to 2361)
  AUTHORS   Guo,L., Zhang,X., Li,X., Wang,K., Wang,Y., Abulikemu,A., Su,X.,
            Shu,M., Li,H., Cui,S., Xu,Z., Tian,H., Niu,Y., Yuan,H., He,Z.,
            Sun,X. and Duan,H.
  TITLE     Polycyclic aromatic hydrocarbon and its adducts in peripheral
            blood: Gene and environment interaction among Chinese population
  JOURNAL   Environ Int 190, 108922 (2024)
   PUBMED   39128373
  REMARK    GeneRIF: Polycyclic aromatic hydrocarbon and its adducts in
            peripheral blood: Gene and environment interaction among Chinese
            population.
REFERENCE   4  (bases 1 to 2361)
  AUTHORS   Aslantas,M., Kilicaslan,O., Eroz,R. and Kocabay,K.
  TITLE     The Evaluation of the Genetic Variation Types of the Uridine
            Diphosphate Glucuronosyl Transferase 1A1 Gene by Next-Generation
            Sequencing and Their Effects on Bilirubin Levels in Obese Children
  JOURNAL   Genet Test Mol Biomarkers 28 (7), 275-280 (2024)
   PUBMED   38916116
  REMARK    GeneRIF: The Evaluation of the Genetic Variation Types of the
            Uridine Diphosphate Glucuronosyl Transferase 1A1 Gene by
            Next-Generation Sequencing and Their Effects on Bilirubin Levels in
            Obese Children.
REFERENCE   5  (bases 1 to 2361)
  AUTHORS   Xiong,Q.F., Lu,Y.J., Zou,L., Zhou,H., Ren,H., Feng,X.N. and
            Yang,Y.F.
  TITLE     [Correlation between the mutation spectrum of the UGT1A1 gene and
            clinical phenotype in patients with inherited hyperunconjugated
            bilirubinemia]
  JOURNAL   Zhonghua Gan Zang Bing Za Zhi 32 (4), 340-345 (2024)
   PUBMED   38733189
  REMARK    GeneRIF: [Correlation between the mutation spectrum of the UGT1A1
            gene and clinical phenotype in patients with inherited
            hyperunconjugated bilirubinemia].
REFERENCE   6  (bases 1 to 2361)
  AUTHORS   Ritter,J.K., Yeatman,M.T., Ferreira,P. and Owens,I.S.
  TITLE     Identification of a genetic alteration in the code for bilirubin
            UDP-glucuronosyltransferase in the UGT1 gene complex of a
            Crigler-Najjar type I patient
  JOURNAL   J Clin Invest 90 (1), 150-155 (1992)
   PUBMED   1634606
REFERENCE   7  (bases 1 to 2361)
  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   8  (bases 1 to 2361)
  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   9  (bases 1 to 2361)
  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
REFERENCE   10 (bases 1 to 2361)
  AUTHORS   Harding,D., Jeremiah,S.J., Povey,S. and Burchell,B.
  TITLE     Chromosomal mapping of a human phenol UDP-glucuronosyltransferase,
            GNT1
  JOURNAL   Ann Hum Genet 54 (1), 17-21 (1990)
   PUBMED   2108603
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006985.2, M57899.1 and
            AY435136.1.
            
            On Aug 31, 2019 this sequence version replaced NM_000463.2.
            
            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. The preferred substrate of this enzyme is bilirubin,
            although it also has moderate activity with simple phenols,
            flavones, and C18 steroids. Mutations in this gene result in
            Crigler-Najjar syndromes types I and II and in Gilbert syndrome.
            [provided by RefSeq, Jul 2008].
            
            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 :: AY435136.1, JQ699644.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305208.10/ ENSP00000304845.5
            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
            1-3                 AC006985.2         66171-66173         c
            4-18                M57899.1           1-15
            19-2360             AY435136.1         1-2342
            2361-2361           AC006985.2         53143-53143         c
FEATURES             Location/Qualifiers
     source          1..2361
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..2361
                     /gene="UGT1A1"
                     /gene_synonym="BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1;
                     UGT1; UGT1A"
                     /note="UDP glucuronosyltransferase family 1 member A1"
                     /db_xref="GeneID:54658"
                     /db_xref="HGNC:HGNC:12530"
                     /db_xref="MIM:191740"
     exon            1..882
                     /gene="UGT1A1"
                     /gene_synonym="BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1;
                     UGT1; UGT1A"
                     /inference="alignment:Splign:2.1.0"
     CDS             19..1620
                     /gene="UGT1A1"
                     /gene_synonym="BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1;
                     UGT1; UGT1A"
                     /EC_number="2.4.1.17"
                     /note="UDP glycosyltransferase 1 family, polypeptide A1;
                     bilirubin UDP-glucuronosyltranserase; bilirubin
                     UDP-glucuronosyltransferase isozyme 1; bilirubin
                     UDP-glucuronosyltransferase 1-1; UGT-1A; UGT1*1;
                     UDP-glucuronosyltransferase 1A; UGT1.1; UGT1-01;
                     UDP-glucuronosyltransferase 1A1; bilirubin-specific UDPGT
                     isozyme 1; UDP-glucuronosyltransferase 1-A; UDP
                     glucuronosyltransferase 1 family, polypeptide A1"
                     /codon_start=1
                     /product="UDP-glucuronosyltransferase 1A1 precursor"
                     /protein_id="NP_000454.1"
                     /db_xref="CCDS:CCDS2510.1"
                     /db_xref="GeneID:54658"
                     /db_xref="HGNC:HGNC:12530"
                     /db_xref="MIM:191740"
                     /translation="MAVESQGGRPLVLGLLLCVLGPVVSHAGKILLIPVDGSHWLSML
                     GAIQQLQQRGHEIVVLAPDASLYIRDGAFYTLKTYPVPFQREDVKESFVSLGHNVFEN
                     DSFLQRVIKTYKKIKKDSAMLLSGCSHLLHNKELMASLAESSFDVMLTDPFLPCSPIV
                     AQYLSLPTVFFLHALPCSLEFEATQCPNPFSYVPRPLSSHSDHMTFLQRVKNMLIAFS
                     QNFLCDVVYSPYATLASEFLQREVTVQDLLSSASVWLFRSDFVKDYPRPIMPNMVFVG
                     GINCLHQNPLSQEFEAYINASGEHGIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVL
                     WRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMP
                     LFGDQMDNAKRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDR
                     PVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVAFITFK
                     CCAYGYRKCLGKKGRVKKAHKSKTH"
     exon            883..1014
                     /gene="UGT1A1"
                     /gene_synonym="BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1;
                     UGT1; UGT1A"
                     /inference="alignment:Splign:2.1.0"
     exon            1015..1102
                     /gene="UGT1A1"
                     /gene_synonym="BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1;
                     UGT1; UGT1A"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..1322
                     /gene="UGT1A1"
                     /gene_synonym="BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1;
                     UGT1; UGT1A"
                     /inference="alignment:Splign:2.1.0"
     exon            1323..2361
                     /gene="UGT1A1"
                     /gene_synonym="BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1;
                     UGT1; UGT1A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2341..2346
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT1A1"
                     /gene_synonym="BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1;
                     UGT1; UGT1A"
                     /note="hexamer: AATAAA"
     polyA_site      2361
                     /gene="UGT1A1"
                     /gene_synonym="BILIQTL1; GNT1; HUG-BR1; UDPGT; UDPGT 1-1;
                     UGT1; UGT1A"
                     /note="major polyA site"
ORIGIN      
        1 ggcaggagca aaggcgccat ggctgtggag tcccagggcg gacgcccact tgtcctgggc
       61 ctgctgctgt gtgtgctggg cccagtggtg tcccatgctg ggaagatact gttgatccca
      121 gtggatggca gccactggct gagcatgctt ggggccatcc agcagctgca gcagagggga
      181 catgaaatag ttgtcctagc acctgacgcc tcgttgtaca tcagagacgg agcattttac
      241 accttgaaga cgtaccctgt gccattccaa agggaggatg tgaaagagtc ttttgttagt
      301 ctcgggcata atgtttttga gaatgattct ttcctgcagc gtgtgatcaa aacatacaag
      361 aaaataaaaa aggactctgc tatgcttttg tctggctgtt cccacttact gcacaacaag
      421 gagctcatgg cctccctggc agaaagcagc tttgatgtca tgctgacgga ccctttcctt
      481 ccttgcagcc ccatcgtggc ccagtacctg tctctgccca ctgtattctt cttgcatgca
      541 ctgccatgca gcctggaatt tgaggctacc cagtgcccca acccattctc ctacgtgccc
      601 aggcctctct cctctcattc agatcacatg accttcctgc agcgggtgaa gaacatgctc
      661 attgcctttt cacagaactt tctgtgcgac gtggtttatt ccccgtatgc aacccttgcc
      721 tcagaattcc ttcagagaga ggtgactgtc caggacctat tgagctctgc atctgtctgg
      781 ctgtttagaa gtgactttgt gaaggattac cctaggccca tcatgcccaa tatggttttt
      841 gttggtggaa tcaactgcct tcaccaaaat ccactatccc aggaatttga agcctacatt
      901 aatgcttctg gagaacatgg aattgtggtt ttctctttgg gatcaatggt ctcagaaatt
      961 ccagagaaga aagctatggc aattgctgat gctttgggca aaatccctca gacagtcctg
     1021 tggcggtaca ctggaacccg accatcgaat cttgcgaaca acacgatact tgttaagtgg
     1081 ctaccccaaa acgatctgct tggtcacccg atgacccgtg cctttatcac ccatgctggt
     1141 tcccatggtg tttatgaaag catatgcaat ggcgttccca tggtgatgat gcccttgttt
     1201 ggtgatcaga tggacaatgc aaagcgcatg gagactaagg gagctggagt gaccctgaat
     1261 gttctggaaa tgacttctga agatttagaa aatgctctaa aagcagtcat caatgacaaa
     1321 agttacaagg agaacatcat gcgcctctcc agccttcaca aggaccgccc ggtggagccg
     1381 ctggacctgg ccgtgttctg ggtggagttt gtgatgaggc acaagggcgc gccacacctg
     1441 cgccccgcag cccacgacct cacctggtac cagtaccatt ccttggacgt gattggtttc
     1501 ctcttggccg tcgtgctgac agtggccttc atcaccttta aatgttgtgc ttatggctac
     1561 cggaaatgct tggggaaaaa agggcgagtt aagaaagccc acaaatccaa gacccattga
     1621 gaagtgggtg ggaaataagg taaaattttg aaccattccc tagtcatttc caaacttgaa
     1681 aacagaatca gtgttaaatt cattttattc ttattaagga aatactttgc ataaattaat
     1741 cagccccaga gtgctttaaa aaattctctt aaataaaaat aatagactcg ctagtcagta
     1801 aagatatttg aatatgtatc gtgccccctc tggtgtcttt gatcaggatg acatgtgcca
     1861 tttttcagag gacgtgcaga caggctggca ttctagatta cttttcttac tctgaaacat
     1921 ggcctgtttg ggagtgcggg attcaaaggt ggtcccacgg ctgcccctac tgcaaatggc
     1981 agttttaatc ttatcttttg gcttctgcag atggttgcaa ttgatcctta accaataatg
     2041 gtcagtcctc atctctgtcg tgcttcatag gtgccacctt gtgtgtttaa agaagggaag
     2101 ctttgtacct ttagagtgta ggtgaaatga atgaatggct tggagtgcac tgagaacagc
     2161 atatgatttc ttgctttggg gaaaaagaat gatgctatga aattggtggg tggtgtattt
     2221 gagaagataa tcattgctta tgtcaaatgg agctgaattt gataaaaacc caaaatacag
     2281 ctatgaagtg ctgggcaagt ttactttttt tctgatgttt cctacaacta aaaataaatt
     2341 aataaattta tataaattct a
//
