LOCUS       NM_001072               2455 bp    mRNA    linear   PRI 16-FEB-2025
DEFINITION  Homo sapiens UDP glucuronosyltransferase family 1 member A6
            (UGT1A6), transcript variant 1, mRNA.
ACCESSION   NM_001072
VERSION     NM_001072.4
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 2455)
  AUTHORS   Hung,Y.L., Chang,P.F. and Huang,C.S.
  TITLE     Molecular biology of glucose-6-phosphate dehydrogenase and
            UDP-glucuronosyltransferase 1A1 in the development of neonatal
            unconjugated hyperbilirubinemia
  JOURNAL   Pediatr Neonatol 65 (5), 419-426 (2024)
   PUBMED   38480019
  REMARK    GeneRIF: Molecular biology of glucose-6-phosphate dehydrogenase and
            UDP-glucuronosyltransferase 1A1 in the development of neonatal
            unconjugated hyperbilirubinemia.
            Review article
REFERENCE   2  (bases 1 to 2455)
  AUTHORS   Yin,Z. and Li,P.
  TITLE     Association of UGT1A6 gene polymorphisms with sodium
            valproate-induced tremor in patients with epilepsy
  JOURNAL   Seizure 120, 56-60 (2024)
   PUBMED   38908142
  REMARK    GeneRIF: Association of UGT1A6 gene polymorphisms with sodium
            valproate-induced tremor in patients with epilepsy.
REFERENCE   3  (bases 1 to 2455)
  AUTHORS   Saleh Faisal,M., Jamil,A., Ali,N., Alshahrani,A.M. and Almarshad,F.
  TITLE     Distribution pattern of UGT1A6 and UGT2B7 gene polymorphism and its
            impact on the pharmacokinetics of valproic acid and carbamazepine:
            Prospective genetic association study conducted in Pakistani
            patients with epilepsy
  JOURNAL   Gene 892, 147886 (2024)
   PUBMED   37820941
  REMARK    GeneRIF: Distribution pattern of UGT1A6 and UGT2B7 gene
            polymorphism and its impact on the pharmacokinetics of valproic
            acid and carbamazepine: Prospective genetic association study
            conducted in Pakistani patients with epilepsy.
REFERENCE   4  (bases 1 to 2455)
  AUTHORS   Gunduz,A., Duman,D., Basbinar,Y., Tasdelen,B., Kupeli,S. and
            Karpuz,D.
  TITLE     The Role of RARG rs2229774, SLC28A3 rs7853758, and UGT1A6*4
            rs17863783 Single-nucleotide Polymorphisms in the
            Doxorubicin-induced Cardiotoxicity in Solid Childhood Tumors
  JOURNAL   J Pediatr Hematol Oncol 46 (1), e65-e70 (2024)
   PUBMED   37828659
  REMARK    GeneRIF: The Role of RARG rs2229774, SLC28A3 rs7853758, and
            UGT1A6*4 rs17863783 Single-nucleotide Polymorphisms in the
            Doxorubicin-induced Cardiotoxicity in Solid Childhood Tumors.
REFERENCE   5  (bases 1 to 2455)
  AUTHORS   Zheng,X.X., You,Y.X., Zhao,L.L., Du,Y., Xu,S.Q. and Tang,D.Q.
  TITLE     Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on plasma
            concentration of valproic acid in Chinese epilepsy patients
  JOURNAL   Pharmacogenomics 24 (3), 153-162 (2023)
   PUBMED   36718958
  REMARK    GeneRIF: Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on
            plasma concentration of valproic acid in Chinese epilepsy patients.
REFERENCE   6  (bases 1 to 2455)
  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   7  (bases 1 to 2455)
  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   8  (bases 1 to 2455)
  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   9  (bases 1 to 2455)
  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
REFERENCE   10 (bases 1 to 2455)
  AUTHORS   Harding,D., Fournel-Gigleux,S., Jackson,M.R. and Burchell,B.
  TITLE     Cloning and substrate specificity of a human phenol
            UDP-glucuronosyltransferase expressed in COS-7 cells
  JOURNAL   Proc Natl Acad Sci U S A 85 (22), 8381-8385 (1988)
   PUBMED   3141926
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB014621.1, AY435141.1 and
            BE463503.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001072.3.
            
            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 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].
            
            Transcript Variant:  This variant (1) represents the longer
            transcript. Its first exon contains both the 5' UTR and the 5'
            coding sequence, as is typical of the UGT1A genes.
            
            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 :: BC011409.1, AY435141.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305139.11/ ENSP00000303174.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-115               DB014621.1         25-139
            116-2454            AY435141.1         1-2339
            2455-2455           BE463503.1         17-17               c
FEATURES             Location/Qualifiers
     source          1..2455
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..2455
                     /gene="UGT1A6"
                     /gene_synonym="GNT1; HLUGP; HLUGP1; hUG-BR1; UDPGT; UDPGT
                     1-6; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1; UGT1-01;
                     UGT1-03; UGT1-05; UGT1-06; UGT1.1; UGT1.3; UGT1.5; UGT1.6;
                     UGT1A; UGT1A1; UGT1A3; UGT1A5; UGT1A6S; UGT1C; UGT1E;
                     UGT1F"
                     /note="UDP glucuronosyltransferase family 1 member A6"
                     /db_xref="GeneID:54578"
                     /db_xref="HGNC:HGNC:12538"
                     /db_xref="MIM:606431"
     exon            1..976
                     /gene="UGT1A6"
                     /gene_synonym="GNT1; HLUGP; HLUGP1; hUG-BR1; UDPGT; UDPGT
                     1-6; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1; UGT1-01;
                     UGT1-03; UGT1-05; UGT1-06; UGT1.1; UGT1.3; UGT1.5; UGT1.6;
                     UGT1A; UGT1A1; UGT1A3; UGT1A5; UGT1A6S; UGT1C; UGT1E;
                     UGT1F"
                     /inference="alignment:Splign:2.1.0"
     CDS             116..1714
                     /gene="UGT1A6"
                     /gene_synonym="GNT1; HLUGP; HLUGP1; hUG-BR1; UDPGT; UDPGT
                     1-6; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1; UGT1-01;
                     UGT1-03; UGT1-05; UGT1-06; UGT1.1; UGT1.3; UGT1.5; UGT1.6;
                     UGT1A; UGT1A1; UGT1A3; UGT1A5; UGT1A6S; UGT1C; UGT1E;
                     UGT1F"
                     /EC_number="2.4.1.17"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; UDP glycosyltransferase 1 family, polypeptide
                     A6; UDP-glucuronosyltransferase 1A6; phenol-metabolizing
                     UDP-glucuronosyltransferase; UDP-glucuronosyltransferase
                     1-6; UDP-glucuronosyltransferase 1 family polypeptide A6s;
                     UDP-glucuronosyltransferase 1-F; UDP
                     glucuronosyltransferase 1 family, polypeptide A6;
                     UDP-glucuronosyltransferase 1-1; Bilirubin-specific UDPGT
                     isozyme 1; UDP-glucuronosyltransferase 1-A;
                     UDP-glucuronosyltransferase 1A1;
                     UDP-glucuronosyltransferase 1-3;
                     UDP-glucuronosyltransferase 1-C;
                     UDP-glucuronosyltransferase 1A3;
                     UDP-glucuronosyltransferase 1-5;
                     UDP-glucuronosyltransferase 1-E;
                     UDP-glucuronosyltransferase 1A5"
                     /codon_start=1
                     /product="UDP-glucuronosyltransferase 1A6 isoform 1
                     precursor"
                     /protein_id="NP_001063.2"
                     /db_xref="CCDS:CCDS2507.1"
                     /db_xref="GeneID:54578"
                     /db_xref="HGNC:HGNC:12538"
                     /db_xref="MIM:606431"
                     /translation="MACLLRSFQRISAGVFFLALWGMVVGDKLLVVPQDGSHWLSMKD
                     IVEVLSDRGHEIVVVVPEVNLLLKESKYYTRKIYPVPYDQEELKNRYQSFGNNHFAER
                     SFLTAPQTEYRNNMIVIGLYFINCQSLLQDRDTLNFFKESKFDALFTDPALPCGVILA
                     EYLGLPSVYLFRGFPCSLEHTFSRSPDPVSYIPRCYTKFSDHMTFSQRVANFLVNLLE
                     PYLFYCLFSKYEELASAVLKRDVDIITLYQKVSVWLLRYDFVLEYPRPVMPNMVFIGG
                     INCKKRKDLSQEFEAYINASGEHGIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVLW
                     RYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPL
                     FGDQMDNAKRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRP
                     VEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVAFITFKC
                     CAYGYRKCLGKKGRVKKAHKSKTH"
     exon            977..1108
                     /gene="UGT1A6"
                     /gene_synonym="GNT1; HLUGP; HLUGP1; hUG-BR1; UDPGT; UDPGT
                     1-6; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1; UGT1-01;
                     UGT1-03; UGT1-05; UGT1-06; UGT1.1; UGT1.3; UGT1.5; UGT1.6;
                     UGT1A; UGT1A1; UGT1A3; UGT1A5; UGT1A6S; UGT1C; UGT1E;
                     UGT1F"
                     /inference="alignment:Splign:2.1.0"
     exon            1109..1196
                     /gene="UGT1A6"
                     /gene_synonym="GNT1; HLUGP; HLUGP1; hUG-BR1; UDPGT; UDPGT
                     1-6; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1; UGT1-01;
                     UGT1-03; UGT1-05; UGT1-06; UGT1.1; UGT1.3; UGT1.5; UGT1.6;
                     UGT1A; UGT1A1; UGT1A3; UGT1A5; UGT1A6S; UGT1C; UGT1E;
                     UGT1F"
                     /inference="alignment:Splign:2.1.0"
     exon            1197..1416
                     /gene="UGT1A6"
                     /gene_synonym="GNT1; HLUGP; HLUGP1; hUG-BR1; UDPGT; UDPGT
                     1-6; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1; UGT1-01;
                     UGT1-03; UGT1-05; UGT1-06; UGT1.1; UGT1.3; UGT1.5; UGT1.6;
                     UGT1A; UGT1A1; UGT1A3; UGT1A5; UGT1A6S; UGT1C; UGT1E;
                     UGT1F"
                     /inference="alignment:Splign:2.1.0"
     exon            1417..2455
                     /gene="UGT1A6"
                     /gene_synonym="GNT1; HLUGP; HLUGP1; hUG-BR1; UDPGT; UDPGT
                     1-6; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1; UGT1-01;
                     UGT1-03; UGT1-05; UGT1-06; UGT1.1; UGT1.3; UGT1.5; UGT1.6;
                     UGT1A; UGT1A1; UGT1A3; UGT1A5; UGT1A6S; UGT1C; UGT1E;
                     UGT1F"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2435..2440
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT1A6"
                     /gene_synonym="GNT1; HLUGP; HLUGP1; hUG-BR1; UDPGT; UDPGT
                     1-6; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1; UGT1-01;
                     UGT1-03; UGT1-05; UGT1-06; UGT1.1; UGT1.3; UGT1.5; UGT1.6;
                     UGT1A; UGT1A1; UGT1A3; UGT1A5; UGT1A6S; UGT1C; UGT1E;
                     UGT1F"
                     /note="hexamer: AATAAA"
     polyA_site      2455
                     /gene="UGT1A6"
                     /gene_synonym="GNT1; HLUGP; HLUGP1; hUG-BR1; UDPGT; UDPGT
                     1-6; UGT-1A; UGT-1C; UGT-1E; UGT-1F; UGT1; UGT1-01;
                     UGT1-03; UGT1-05; UGT1-06; UGT1.1; UGT1.3; UGT1.5; UGT1.6;
                     UGT1A; UGT1A1; UGT1A3; UGT1A5; UGT1A6S; UGT1C; UGT1E;
                     UGT1F"
                     /note="major polyA site"
ORIGIN      
        1 agaggtagac aggacctgtg aaaagcagtg gttagtttag ggaaaatacc taggagccct
       61 gtgatttgga gagtgaaaac tctttattac cgttgttact ttaactcttt ccaggatggc
      121 ctgcctcctt cgctcatttc agagaatttc tgcaggggtt ttcttcttag cactttgggg
      181 catggttgta ggtgacaagc tgctggtggt ccctcaggac ggaagccact ggcttagtat
      241 gaaggatata gttgaggttc tcagtgaccg gggtcatgag attgtagtgg tggtgcctga
      301 agttaatttg cttttgaaag aatccaaata ctacacaaga aaaatctatc cagtgccgta
      361 tgaccaagaa gagctgaaga accgttacca atcatttgga aacaatcact ttgctgagcg
      421 atcattccta actgctcctc agacagagta caggaataac atgattgtta ttggcctgta
      481 cttcatcaac tgccagagcc tcctgcagga cagggacacc ctgaacttct ttaaggagag
      541 caagtttgat gctcttttca cagacccagc cttaccctgt ggggtgatcc tggctgagta
      601 tttgggccta ccatctgtgt acctcttcag gggttttccg tgttccctgg agcatacatt
      661 cagcagaagc ccagaccctg tgtcctacat tcccaggtgc tacacaaagt tttcagacca
      721 catgactttt tcccaacgag tggccaactt ccttgttaat ttgttggagc cctatctatt
      781 ttattgtctg ttttcaaagt atgaagaact cgcatcagct gtcctcaaga gagatgtgga
      841 tataatcacc ttatatcaga aggtctctgt ttggctgtta agatatgact ttgtgcttga
      901 atatcctagg ccggtcatgc ccaacatggt cttcattgga ggtatcaact gtaagaagag
      961 gaaagacttg tctcaggaat ttgaagccta cattaatgct tctggagaac atggaattgt
     1021 ggttttctct ttgggatcaa tggtctcaga aattccagag aagaaagcta tggcaattgc
     1081 tgatgctttg ggcaaaatcc ctcagacagt cctgtggcgg tacactggaa cccgaccatc
     1141 gaatcttgcg aacaacacga tacttgttaa gtggctaccc caaaacgatc tgcttggtca
     1201 cccgatgacc cgtgccttta tcacccatgc tggttcccat ggtgtttatg aaagcatatg
     1261 caatggcgtt cccatggtga tgatgccctt gtttggtgat cagatggaca atgcaaagcg
     1321 catggagact aagggagctg gagtgaccct gaatgttctg gaaatgactt ctgaagattt
     1381 agaaaatgct ctaaaagcag tcatcaatga caaaagttac aaggagaaca tcatgcgcct
     1441 ctccagcctt cacaaggacc gcccggtgga gccgctggac ctggccgtgt tctgggtgga
     1501 gtttgtgatg aggcacaagg gcgcgccaca cctgcgcccc gcagcccacg acctcacctg
     1561 gtaccagtac cattccttgg acgtgattgg tttcctcttg gccgtcgtgc tgacagtggc
     1621 cttcatcacc tttaaatgtt gtgcttatgg ctaccggaaa tgcttgggga aaaaagggcg
     1681 agttaagaaa gcccacaaat ccaagaccca ttgagaagtg ggtgggaaat aaggtaaaat
     1741 tttgaaccat tccctagtca tttccaaact tgaaaacaga atcagtgtta aattcatttt
     1801 attcttatta aggaaatact ttgcataaat taatcagccc cagagtgctt taaaaaattc
     1861 tcttaaataa aaataataga ctcgctagtc agtaaagata tttgaatatg tatcgtgccc
     1921 cctctggtgt ctttgatcag gatgacatgt gccatttttc agaggacgtg cagacaggct
     1981 ggcattctag attacttttc ttactctgaa acatggcctg tttgggagtg cgggattcaa
     2041 aggtggtccc acggctgccc ctactgcaaa tggcagtttt aatcttatct tttggcttct
     2101 gcagatggtt gcaattgatc cttaaccaat aatggtcagt cctcatctct gtcgtgcttc
     2161 ataggtgcca ccttgtgtgt ttaaagaagg gaagctttgt acctttagag tgtaggtgaa
     2221 atgaatgaat ggcttggagt gcactgagaa cagcatatga tttcttgctt tggggaaaaa
     2281 gaatgatgct atgaaattgg tgggtggtgt atttgagaag ataatcattg cttatgtcaa
     2341 atggagctga atttgataaa aacccaaaat acagctatga agtgctgggc aagtttactt
     2401 tttttctgat gtttcctaca actaaaaata aattaataaa tttatataaa ttcta
//
