LOCUS       NM_001252275            2653 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens UDP glucuronosyltransferase family 2 member A1 complex
            locus (UGT2A1), transcript variant 3, mRNA.
ACCESSION   NM_001252275
VERSION     NM_001252275.3
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 2653)
  AUTHORS   Shelton,J.F., Shastri,A.J., Fletez-Brant,K., Aslibekyan,S. and
            Auton,A.
  CONSRTM   23andMe COVID-19 Team
  TITLE     The UGT2A1/UGT2A2 locus is associated with COVID-19-related loss of
            smell or taste
  JOURNAL   Nat Genet 54 (2), 121-124 (2022)
   PUBMED   35039640
  REMARK    GeneRIF: The UGT2A1/UGT2A2 locus is associated with
            COVID-19-related loss of smell or taste.
REFERENCE   2  (bases 1 to 2653)
  AUTHORS   Sutliff,A.K., Watson,C.J.W., Chen,G. and Lazarus,P.
  TITLE     Regulation of UGT2A1 by miR-196a-5p and miR-196b-5p
  JOURNAL   J Pharmacol Exp Ther 369 (2), 234-243 (2019)
   PUBMED   30850392
  REMARK    GeneRIF: Regulation of UGT2A1 by miR-196a-5p and miR-196b-5p
REFERENCE   3  (bases 1 to 2653)
  AUTHORS   Zhang,S., Zhu,J., Li,H., Wang,L., Niu,J., Zhu,B., He,L., Shen,L.,
            Qin,S. and Fang,S.
  TITLE     Study of the Association of PEAR1, P2Y12, and UGT2A1 Polymorphisms
            with Platelet Reactivity in Response to Dual Antiplatelet Therapy
            in Chinese Patients
  JOURNAL   Cardiology 140 (1), 21-29 (2018)
   PUBMED   29635252
  REMARK    GeneRIF: association of SNPs of PEAR1, P2Y12, and UGT2A1 with
            platelet reactivity in 290 Chinese patients with acute coronary
            syndrome treated with aspirin and clopidogrel
REFERENCE   4  (bases 1 to 2653)
  AUTHORS   Perreault,M., Gauthier-Landry,L., Trottier,J., Verreault,M.,
            Caron,P., Finel,M. and Barbier,O.
  TITLE     The Human UDP-glucuronosyltransferase UGT2A1 and UGT2A2 enzymes are
            highly active in bile acid glucuronidation
  JOURNAL   Drug Metab Dispos 41 (9), 1616-1620 (2013)
   PUBMED   23756265
  REMARK    GeneRIF: The Km values of UGT2A1 varied between 102.2 +/- 14.3
            microM and 2.4 +/- 1.2 mM.
REFERENCE   5  (bases 1 to 2653)
  AUTHORS   Bushey,R.T. and Lazarus,P.
  TITLE     Identification and functional characterization of a novel
            UDP-glucuronosyltransferase 2A1 splice variant: potential
            importance in tobacco-related cancer susceptibility
  JOURNAL   J Pharmacol Exp Ther 343 (3), 712-724 (2012)
   PUBMED   22984225
  REMARK    GeneRIF: Expression of novel UDP-glucuronosyltransferase 2A1 splice
            variant could play an important role in the detoxification of
            carcinogens within target tissues for tobacco carcinogenesis.
REFERENCE   6  (bases 1 to 2653)
  AUTHORS   Sneitz,N., Court,M.H., Zhang,X., Laajanen,K., Yee,K.K., Dalton,P.,
            Ding,X. and Finel,M.
  TITLE     Human UDP-glucuronosyltransferase UGT2A2: cDNA construction,
            expression, and functional characterization in comparison with
            UGT2A1 and UGT2A3
  JOURNAL   Pharmacogenet Genomics 19 (12), 923-934 (2009)
   PUBMED   19858781
  REMARK    GeneRIF: Results show that UGT2A2 not only shares exons 2-6 with
            UGT2A1, it also shares with it a similar tissue expression pattern;
            both UGTs are primarily expressed in nasal epithelium. The 3rd
            member of UGT2A subfamily, UGT2A3 exhibited a different tissue
            expression pattern, found mainly in liver and small intestine.
REFERENCE   7  (bases 1 to 2653)
  AUTHORS   Heydel,J., Leclerc,S., Bernard,P., Pelczar,H., Gradinaru,D.,
            Magdalou,J., Minn,A., Artur,Y. and Goudonnet,H.
  TITLE     Rat olfactory bulb and epithelium UDP-glucuronosyltransferase 2A1
            (UGT2A1) expression: in situ mRNA localization and quantitative
            analysis
  JOURNAL   Brain Res Mol Brain Res 90 (1), 83-92 (2001)
   PUBMED   11376859
REFERENCE   8  (bases 1 to 2653)
  AUTHORS   Tukey,R.H. and Strassburg,C.P.
  TITLE     Genetic multiplicity of the human UDP-glucuronosyltransferases and
            regulation in the gastrointestinal tract
  JOURNAL   Mol Pharmacol 59 (3), 405-414 (2001)
   PUBMED   11179432
  REMARK    Review article
REFERENCE   9  (bases 1 to 2653)
  AUTHORS   Strassburg,C.P., Kneip,S., Topp,J., Obermayer-Straub,P., Barut,A.,
            Tukey,R.H. and Manns,M.P.
  TITLE     Polymorphic gene regulation and interindividual variation of
            UDP-glucuronosyltransferase activity in human small intestine
  JOURNAL   J Biol Chem 275 (46), 36164-36171 (2000)
   PUBMED   10748067
REFERENCE   10 (bases 1 to 2653)
  AUTHORS   Jedlitschky,G., Cassidy,A.J., Sales,M., Pratt,N. and Burchell,B.
  TITLE     Cloning and characterization of a novel human olfactory
            UDP-glucuronosyltransferase
  JOURNAL   Biochem J 340 (Pt 3) (Pt 3), 837-843 (1999)
   PUBMED   10359671
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK304249.1, AK314209.1,
            BC142640.1 and BE463677.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001252275.2.
            
            Summary: The protein encoded by this gene belongs to the
            UDP-glycosyltransferase family. Members of this protein family play
            a role in the conjugation and subsequent elimination of potentially
            toxic xenobiotics and endogenous compounds. The encoded enzyme is
            expressed in the olfactory neuroepithelium, which lines the
            posterior nasal cavity and is exposed to a wide range of odorants
            and airborne toxic compounds. Hence, this protein has been
            suggested to be involved in clearing lipophilic odorant molecules
            from the sensory epithelium. This gene shares exon structure with
            the UDP glucuronosyltransferase 2A2 family member, which encodes
            N-terminally distinct isoforms. Polymorphisms in this gene may be
            associated with the loss of taste and smell that is reported by
            some individuals during SARS-CoV-2 infection. [provided by RefSeq,
            Jan 2022].
            
            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 :: AK314209.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2145774,
                                           SAMEA2155590 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: relevant for disease process
            MANE Ensembl match     :: ENST00000286604.9/ ENSP00000286604.4
            RefSeq Select criteria :: based on manual assertion
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-756               AK304249.1         3-758
            757-1698            AK314209.1         757-1698
            1699-2498           BC142640.1         1569-2368
            2499-2653           BE463677.1         2-156               c
FEATURES             Location/Qualifiers
     source          1..2653
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q13.3"
     gene            1..2653
                     /gene="UGT2A1"
                     /gene_synonym="UDPGT2A1"
                     /note="UDP glucuronosyltransferase family 2 member A1
                     complex locus"
                     /db_xref="GeneID:10941"
                     /db_xref="HGNC:HGNC:12542"
                     /db_xref="MIM:604716"
     exon            1..60
                     /gene="UGT2A1"
                     /gene_synonym="UDPGT2A1"
                     /inference="alignment:Splign:2.1.0"
     exon            61..829
                     /gene="UGT2A1"
                     /gene_synonym="UDPGT2A1"
                     /inference="alignment:Splign:2.1.0"
     CDS             115..1698
                     /gene="UGT2A1"
                     /gene_synonym="UDPGT2A1"
                     /EC_number="2.4.1.17"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3; UDP glycosyltransferase 2 family, polypeptide
                     A1; UDP-glucuronosyltransferase 2A1; uridine diphosphate
                     glycosyltransferase 2 family, member A1; UDP
                     glucuronosyltransferase 2 family, polypeptide A1, complex
                     locus"
                     /codon_start=1
                     /product="UDP-glucuronosyltransferase 2A1 isoform 3
                     precursor"
                     /protein_id="NP_001239204.2"
                     /db_xref="CCDS:CCDS58901.1"
                     /db_xref="GeneID:10941"
                     /db_xref="HGNC:HGNC:12542"
                     /db_xref="MIM:604716"
                     /translation="MLNNLLLFSLQISLIGTTLGGNVLIWPMEGSHWLNVKIIIDELI
                     KKEHNVTVLVASGALFITPTSNPSLTFEIYKVPFGKERIEGVIKDFVLTWLENRPSPS
                     TIWRFYQEMAKVIKDFHMVSQEICDGVLKNQQLMAKLKKSKFEVLVSDPVFPCGDIVA
                     LKLGIPFMYSLRFSPASTVEKHCGKVPYPPSYVPAVLSELTDQMSFTDRIRNFISYHL
                     QDYMFETLWKSWDSYYSKALGGLLLCCPGWSAVADLGSLQPLLPGFKRFSRLSLHCSW
                     DYRLPAGRPTTLCETMGKAEIWLIRTYWDFEFPRPYLPNFEFVGGLHCKPAKPLPKVL
                     WRYKGKKPATLGNNTQLFDWIPQNDLLGHPKTKAFITHGGTNGIYEAIYHGVPMVGVP
                     MFADQPDNIAHMKAKGAAVEVNLNTMTSVDLLSALRTVINEPSYKENAMRLSRIHHDQ
                     PVKPLDRAVFWIEFVMRHKGAKHLRVAAHDLTWFQYHSLDVIGFLLVCVTTAIFLVIQ
                     CCLFSCQKFGKIGKKKKRE"
     exon            830..961
                     /gene="UGT2A1"
                     /gene_synonym="UDPGT2A1"
                     /inference="alignment:Splign:2.1.0"
     exon            962..1110
                     /gene="UGT2A1"
                     /gene_synonym="UDPGT2A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1111..1198
                     /gene="UGT2A1"
                     /gene_synonym="UDPGT2A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1199..1418
                     /gene="UGT2A1"
                     /gene_synonym="UDPGT2A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1419..2653
                     /gene="UGT2A1"
                     /gene_synonym="UDPGT2A1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2627..2632
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT2A1"
                     /gene_synonym="UDPGT2A1"
                     /note="hexamer: AATAAA"
     polyA_site      2653
                     /gene="UGT2A1"
                     /gene_synonym="UDPGT2A1"
                     /note="major polyA site"
ORIGIN      
        1 acattcggct tcttcctaat gtcaaatgag tgctgttaaa gttcctccag gaaacttcag
       61 cagagaaaaa catttgcttc acatctcatc aaatcttctg catcaagcca catcatgtta
      121 aacaaccttc tgctgttctc ccttcagata agtctcatag gaaccactct tggtgggaat
      181 gttttgattt ggccaatgga aggtagtcat tggctaaatg ttaagataat tatagatgag
      241 ctcattaaaa aggagcataa tgtgactgtc ctagttgcct ctggtgcact tttcatcaca
      301 ccaacctcta acccatctct gacatttgaa atatataagg tgccctttgg caaagaaaga
      361 atagaaggag taattaagga cttcgttttg acatggctgg aaaatagacc atctccttca
      421 accatttgga gattctatca ggagatggcc aaagtaatca aggacttcca catggtgtct
      481 caggagatct gtgatggcgt tcttaaaaac caacagctga tggcaaagct aaagaaaagc
      541 aagtttgaag tcctggtgtc tgatccagta tttccttgtg gcgatatagt agctttaaaa
      601 cttggaattc catttatgta ctccttgagg ttttctccag cctcaacagt ggaaaagcac
      661 tgtgggaagg taccataccc tccttcctat gttcctgctg ttttatcaga actcaccgac
      721 caaatgtctt tcactgacag aataagaaat ttcatctcct accacctaca ggactacatg
      781 tttgaaactc tttggaaatc atgggattca tactatagta aagctttagg tggactctta
      841 ctctgttgcc caggctggag tgcagtggcg gatcttggct cactgcaacc tctgcttccc
      901 gggttcaagc gattctcccg cctcagcctc cattgtagtt gggattacag gctgccagca
      961 ggaagaccca ctacgttatg tgagactatg gggaaagctg aaatttggtt aatccgaaca
     1021 tattgggatt ttgaatttcc tcgtccatac ttacctaatt ttgagtttgt tggaggattg
     1081 cactgcaaac ctgccaaacc tttacctaag gttttatgga gatacaaagg aaagaaacca
     1141 gccacattag gaaacaatac tcagctcttt gattggatac cccagaatga tcttcttgga
     1201 catcccaaaa ccaaagcttt tatcactcat ggtggaacta atgggatcta cgaagctatt
     1261 taccacggag tccctatggt gggagttccc atgtttgctg atcagcctga taacattgct
     1321 cacatgaagg ccaaaggagc agctgtggaa gtgaacctaa acacaatgac aagtgtggat
     1381 ttgcttagcg ctttgagaac agtcattaat gaaccttctt ataaagagaa tgctatgagg
     1441 ttatcaagaa ttcaccatga tcaacctgta aagcccctgg atcgagcagt cttctggatc
     1501 gagtttgtca tgcgccacaa aggagccaag caccttcggg ttgcagccca tgacctcacc
     1561 tggttccagt accactcttt ggatgtaatt gggttcttgc tggtctgtgt gacaacggct
     1621 atatttttgg tcatacaatg ttgtttgttt tcctgtcaaa aatttggtaa gataggaaag
     1681 aagaaaaaaa gagaataggt caagaaaaag aggaaatata tatattttta agtttggcaa
     1741 aatcctgagt agtgtagtcc tattaattcc agacaaaagg agtttaacaa aaacacgtct
     1801 cccatcctgt ttccaaattt tctatttctc tacctgcgat aagcctactg ataaagccta
     1861 gattttggca tgattattat taacttgtga gttatagtct tctatttttc ctttgtctct
     1921 ccctgctgac tataccctct tcctgtcact tttctgacac aaggatacta cctaatttta
     1981 aatatgttct attcatagta tcaaattatt ttatcgttaa ccttaattaa tgattaacaa
     2041 tatgctgaat cctggtaatg catacagtgt agatggaatt tgataggtgt aaggaagagt
     2101 caaattcaca aatttccata taccaaacaa atcagggagc caccgtagga gagtagtgtg
     2161 ttatgagaaa ggtaatgatt tcctttttta ataaaaacaa actcttctgc ttgctcaatg
     2221 tttcaggagt tagagaatga attttaagtg tgacgtgcgt ccctattaaa tgtctacaaa
     2281 attttcatta agcatatcta gaaaatcacg gcataacttg cctgcctttc ttcaacatat
     2341 attcttatat aacctgtagt ggaagatttg ggtactgtct ttaataaatc aatcaatcga
     2401 ctcttttatt tcaaggagaa agttctatgt tatatgttga aggtgaacag atcatattta
     2461 gaggatataa caattagaaa tctagaaaat aattatcatt tttataaaat ttttagtcaa
     2521 ctgtacaaat aattacataa aacatcaatt aattatgctt aaaaatcact aatgttcata
     2581 atatataatc actatttgta atcaaaagtt taattttatg ccaaaaaata aaaaatgctt
     2641 acttggaatt tga
//
