LOCUS       NM_019078               2431 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens UDP glucuronosyltransferase family 1 member A5
            (UGT1A5), mRNA.
ACCESSION   NM_019078
VERSION     NM_019078.2
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   Yang,F., Machalz,D., Wang,S., Li,Z., Wolber,G. and Bureik,M.
  TITLE     A common polymorphic variant of UGT1A5 displays increased activity
            due to optimized cofactor binding
  JOURNAL   FEBS Lett 592 (11), 1837-1846 (2018)
   PUBMED   29710432
  REMARK    GeneRIF: Extensive molecular dynamics simulations revealed that the
            Gly259Arg mutation stabilizes helix Q through a newly formed
            hydrogen bonding network, which places the cofactor in a much more
            favorable geometry in UGT1A5*8 as compared to the wild-type.
REFERENCE   2  (bases 1 to 2431)
  AUTHORS   DiStefano,J.K., Kingsley,C., Craig Wood,G., Chu,X.,
            Argyropoulos,G., Still,C.D., Done,S.C., Legendre,C., Tembe,W. and
            Gerhard,G.S.
  TITLE     Genome-wide analysis of hepatic lipid content in extreme obesity
  JOURNAL   Acta Diabetol 52 (2), 373-382 (2015)
   PUBMED   25246029
REFERENCE   3  (bases 1 to 2431)
  AUTHORS   Shin,S.Y., Fauman,E.B., Petersen,A.K., Krumsiek,J., Santos,R.,
            Huang,J., Arnold,M., Erte,I., Forgetta,V., Yang,T.P., Walter,K.,
            Menni,C., Chen,L., Vasquez,L., Valdes,A.M., Hyde,C.L., Wang,V.,
            Ziemek,D., Roberts,P., Xi,L., Grundberg,E., Waldenberger,M.,
            Richards,J.B., Mohney,R.P., Milburn,M.V., John,S.L., Trimmer,J.,
            Theis,F.J., Overington,J.P., Suhre,K., Brosnan,M.J., Gieger,C.,
            Kastenmuller,G., Spector,T.D. and Soranzo,N.
  CONSRTM   Multiple Tissue Human Expression Resource (MuTHER) Consortium
  TITLE     An atlas of genetic influences on human blood metabolites
  JOURNAL   Nat Genet 46 (6), 543-550 (2014)
   PUBMED   24816252
REFERENCE   4  (bases 1 to 2431)
  AUTHORS   Yu,B., Zheng,Y., Alexander,D., Morrison,A.C., Coresh,J. and
            Boerwinkle,E.
  TITLE     Genetic determinants influencing human serum metabolome among
            African Americans
  JOURNAL   PLoS Genet 10 (3), e1004212 (2014)
   PUBMED   24625756
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2431)
  AUTHORS   Willer,C.J., Schmidt,E.M., Sengupta,S., Peloso,G.M., Gustafsson,S.,
            Kanoni,S., Ganna,A., Chen,J., Buchkovich,M.L., Mora,S.,
            Beckmann,J.S., Bragg-Gresham,J.L., Chang,H.Y., Demirkan,A., Den
            Hertog,H.M., Do,R., Donnelly,L.A., Ehret,G.B., Esko,T.,
            Feitosa,M.F., Ferreira,T., Fischer,K., Fontanillas,P., Fraser,R.M.,
            Freitag,D.F., Gurdasani,D., Heikkila,K., Hypponen,E., Isaacs,A.,
            Jackson,A.U., Johansson,A., Johnson,T., Kaakinen,M., Kettunen,J.,
            Kleber,M.E., Li,X., Luan,J., Lyytikainen,L.P., Magnusson,P.K.E.,
            Mangino,M., Mihailov,E., Montasser,M.E., Muller-Nurasyid,M.,
            Nolte,I.M., O'Connell,J.R., Palmer,C.D., Perola,M., Petersen,A.K.,
            Sanna,S., Saxena,R., Service,S.K., Shah,S., Shungin,D., Sidore,C.,
            Song,C., Strawbridge,R.J., Surakka,I., Tanaka,T., Teslovich,T.M.,
            Thorleifsson,G., Van den Herik,E.G., Voight,B.F., Volcik,K.A.,
            Waite,L.L., Wong,A., Wu,Y., Zhang,W., Absher,D., Asiki,G.,
            Barroso,I., Been,L.F., Bolton,J.L., Bonnycastle,L.L., Brambilla,P.,
            Burnett,M.S., Cesana,G., Dimitriou,M., Doney,A.S.F., Doring,A.,
            Elliott,P., Epstein,S.E., Ingi Eyjolfsson,G., Gigante,B.,
            Goodarzi,M.O., Grallert,H., Gravito,M.L., Groves,C.J., Hallmans,G.,
            Hartikainen,A.L., Hayward,C., Hernandez,D., Hicks,A.A., Holm,H.,
            Hung,Y.J., Illig,T., Jones,M.R., Kaleebu,P., Kastelein,J.J.P.,
            Khaw,K.T., Kim,E., Klopp,N., Komulainen,P., Kumari,M.,
            Langenberg,C., Lehtimaki,T., Lin,S.Y., Lindstrom,J., Loos,R.J.F.,
            Mach,F., McArdle,W.L., Meisinger,C., Mitchell,B.D., Muller,G.,
            Nagaraja,R., Narisu,N., Nieminen,T.V.M., Nsubuga,R.N., Olafsson,I.,
            Ong,K.K., Palotie,A., Papamarkou,T., Pomilla,C., Pouta,A.,
            Rader,D.J., Reilly,M.P., Ridker,P.M., Rivadeneira,F., Rudan,I.,
            Ruokonen,A., Samani,N., Scharnagl,H., Seeley,J., Silander,K.,
            Stancakova,A., Stirrups,K., Swift,A.J., Tiret,L.,
            Uitterlinden,A.G., van Pelt,L.J., Vedantam,S., Wainwright,N.,
            Wijmenga,C., Wild,S.H., Willemsen,G., Wilsgaard,T., Wilson,J.F.,
            Young,E.H., Zhao,J.H., Adair,L.S., Arveiler,D., Assimes,T.L.,
            Bandinelli,S., Bennett,F., Bochud,M., Boehm,B.O., Boomsma,D.I.,
            Borecki,I.B., Bornstein,S.R., Bovet,P., Burnier,M., Campbell,H.,
            Chakravarti,A., Chambers,J.C., Chen,Y.I., Collins,F.S.,
            Cooper,R.S., Danesh,J., Dedoussis,G., de Faire,U., Feranil,A.B.,
            Ferrieres,J., Ferrucci,L., Freimer,N.B., Gieger,C., Groop,L.C.,
            Gudnason,V., Gyllensten,U., Hamsten,A., Harris,T.B., Hingorani,A.,
            Hirschhorn,J.N., Hofman,A., Hovingh,G.K., Hsiung,C.A.,
            Humphries,S.E., Hunt,S.C., Hveem,K., Iribarren,C., Jarvelin,M.R.,
            Jula,A., Kahonen,M., Kaprio,J., Kesaniemi,A., Kivimaki,M.,
            Kooner,J.S., Koudstaal,P.J., Krauss,R.M., Kuh,D., Kuusisto,J.,
            Kyvik,K.O., Laakso,M., Lakka,T.A., Lind,L., Lindgren,C.M.,
            Martin,N.G., Marz,W., McCarthy,M.I., McKenzie,C.A., Meneton,P.,
            Metspalu,A., Moilanen,L., Morris,A.D., Munroe,P.B., Njolstad,I.,
            Pedersen,N.L., Power,C., Pramstaller,P.P., Price,J.F., Psaty,B.M.,
            Quertermous,T., Rauramaa,R., Saleheen,D., Salomaa,V.,
            Sanghera,D.K., Saramies,J., Schwarz,P.E.H., Sheu,W.H.,
            Shuldiner,A.R., Siegbahn,A., Spector,T.D., Stefansson,K.,
            Strachan,D.P., Tayo,B.O., Tremoli,E., Tuomilehto,J., Uusitupa,M.,
            van Duijn,C.M., Vollenweider,P., Wallentin,L., Wareham,N.J.,
            Whitfield,J.B., Wolffenbuttel,B.H.R., Ordovas,J.M., Boerwinkle,E.,
            Palmer,C.N.A., Thorsteinsdottir,U., Chasman,D.I., Rotter,J.I.,
            Franks,P.W., Ripatti,S., Cupples,L.A., Sandhu,M.S., Rich,S.S.,
            Boehnke,M., Deloukas,P., Kathiresan,S., Mohlke,K.L., Ingelsson,E.
            and Abecasis,G.R.
  CONSRTM   Global Lipids Genetics Consortium
  TITLE     Discovery and refinement of loci associated with lipid levels
  JOURNAL   Nat Genet 45 (11), 1274-1283 (2013)
   PUBMED   24097068
REFERENCE   6  (bases 1 to 2431)
  AUTHORS   Gong,Q.H., Cho,J.W., Huang,T., Potter,C., Gholami,N., Basu,N.K.,
            Kubota,S., Carvalho,S., Pennington,M.W., Owens,I.S. and
            Popescu,N.C.
  TITLE     Thirteen UDPglucuronosyltransferase genes are encoded at the human
            UGT1 gene complex locus
  JOURNAL   Pharmacogenetics 11 (4), 357-368 (2001)
   PUBMED   11434514
REFERENCE   7  (bases 1 to 2431)
  AUTHORS   Tukey,R.H. and Strassburg,C.P.
  TITLE     Human UDP-glucuronosyltransferases: metabolism, expression, and
            disease
  JOURNAL   Annu Rev Pharmacol Toxicol 40, 581-616 (2000)
   PUBMED   10836148
  REMARK    Review article
REFERENCE   8  (bases 1 to 2431)
  AUTHORS   Mackenzie,P.I., Owens,I.S., Burchell,B., Bock,K.W., Bairoch,A.,
            Belanger,A., Fournel-Gigleux,S., Green,M., Hum,D.W., Iyanagi,T.,
            Lancet,D., Louisot,P., Magdalou,J., Chowdhury,J.R., Ritter,J.K.,
            Schachter,H., Tephly,T.R., Tipton,K.F. and Nebert,D.W.
  TITLE     The UDP glycosyltransferase gene superfamily: recommended
            nomenclature update based on evolutionary divergence
  JOURNAL   Pharmacogenetics 7 (4), 255-269 (1997)
   PUBMED   9295054
  REMARK    Review article
REFERENCE   9  (bases 1 to 2431)
  AUTHORS   van Es,H.H., Bout,A., Liu,J., Anderson,L., Duncan,A.M., Bosma,P.,
            Oude Elferink,R., Jansen,P.L., Chowdhury,J.R. and Schurr,E.
  TITLE     Assignment of the human UDP glucuronosyltransferase gene (UGT1A1)
            to chromosome region 2q37
  JOURNAL   Cytogenet Cell Genet 63 (2), 114-116 (1993)
   PUBMED   8467709
REFERENCE   10 (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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC114812.5 and AC006985.2.
            
            On Oct 19, 2020 this sequence version replaced NM_019078.1.
            
            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. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: AY435140.1, SRR5189664.50097.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373414.4/ ENSP00000362513.3
            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
            1-952               AC114812.5         38897-39848
            953-1084            AC006985.2         59278-59409         c
            1085-1172           AC006985.2         58507-58594         c
            1173-1392           AC006985.2         58004-58223         c
            1393-2431           AC006985.2         53143-54181         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="UGT1A5"
                     /gene_synonym="UDPGT; UDPGT 1-5; UGT1E"
                     /note="UDP glucuronosyltransferase family 1 member A5"
                     /db_xref="GeneID:54579"
                     /db_xref="HGNC:HGNC:12537"
                     /db_xref="MIM:606430"
     exon            1..952
                     /gene="UGT1A5"
                     /gene_synonym="UDPGT; UDPGT 1-5; UGT1E"
                     /inference="alignment:Splign:2.1.0"
     CDS             86..1690
                     /gene="UGT1A5"
                     /gene_synonym="UDPGT; UDPGT 1-5; UGT1E"
                     /EC_number="2.4.1.17"
                     /note="UDP glycosyltransferase 1 family, polypeptide A5;
                     UDP-glucuronosyltransferase 1A5;
                     UDP-glucuronosyltransferase 1-5;
                     UDP-glucuronosyltransferase 1 family polypeptide A5s;
                     UGT-1E; UGT1*5; UDP-glucuronosyltransferase 1-E; UDP
                     glucuronosyltransferase 1 family, polypeptide A5"
                     /codon_start=1
                     /product="UDP-glucuronosyltransferase 1A5 precursor"
                     /protein_id="NP_061951.1"
                     /db_xref="CCDS:CCDS33404.1"
                     /db_xref="GeneID:54579"
                     /db_xref="HGNC:HGNC:12537"
                     /db_xref="MIM:606430"
                     /translation="MATGLQVPLPQLATGLLLLLSVQPWAESGKVLVVPTDGSHWLSM
                     REALRDLHARGHQVVVLTLEVNMYIKEENFFTLTTYAISWTQDEFDRLLLGHTQSFFE
                     TEHLLMKFSRRMAIMNNMSLIIHRSCVELLHNEALIRHLHATSFDVVLTDPFHLCAAV
                     LAKYLSIPAVFFLRNIPCDLDFKGTQCPNPSSYIPRLLTTNSDHMTFLQRVKNMLYPL
                     ALSYLCHAVSAPYASLASELFQREVSVVDLVSHASVWLFRGDFVMDYPRPIMPNMVFI
                     GGINCANGKPLSQEFEAYINASGEHGIVVFSLGSMVSEIPEKKAMAIADALGKIPQTV
                     LWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMM
                     PLFGDQMDNAKRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKD
                     RPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVAFITF
                     KCCAYGYRKCLGKKGRVKKAHKSKTH"
     exon            953..1084
                     /gene="UGT1A5"
                     /gene_synonym="UDPGT; UDPGT 1-5; UGT1E"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1172
                     /gene="UGT1A5"
                     /gene_synonym="UDPGT; UDPGT 1-5; UGT1E"
                     /inference="alignment:Splign:2.1.0"
     exon            1173..1392
                     /gene="UGT1A5"
                     /gene_synonym="UDPGT; UDPGT 1-5; UGT1E"
                     /inference="alignment:Splign:2.1.0"
     exon            1393..2431
                     /gene="UGT1A5"
                     /gene_synonym="UDPGT; UDPGT 1-5; UGT1E"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2411..2416
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGT1A5"
                     /gene_synonym="UDPGT; UDPGT 1-5; UGT1E"
                     /note="hexamer: AATAAA"
     polyA_site      2431
                     /gene="UGT1A5"
                     /gene_synonym="UDPGT; UDPGT 1-5; UGT1E"
                     /note="major polyA site"
ORIGIN      
        1 agtgacaagg taattaagac gaaggaaaca attctaggag gcacaacgtg gggtggacag
       61 tcagctgtcg gtggcttctg ctgagatggc cacaggactc caggttcccc tgccgcagct
      121 ggccacagga ctgctgcttc tcctcagtgt ccagccctgg gctgagagtg ggaaggtgct
      181 ggtggtgccc actgatggca gccactggct cagcatgcgg gaggccttgc gggacctcca
      241 tgcgagaggc caccaggtgg tggtcctcac cctggaggtg aatatgtaca tcaaagaaga
      301 gaactttttc accctgacaa cgtatgccat ttcatggacc caggacgaat ttgatcgcct
      361 tttgctgggt cacactcaat cgttctttga aacagaacat cttctgatga aattttctag
      421 aagaatggca attatgaaca atatgtcttt gatcatacat aggtcttgtg tggagctact
      481 gcataatgag gccctgatca ggcacctgca tgctacttcc tttgatgtgg ttctaacaga
      541 cccctttcac ctctgcgcgg cggtgctggc taagtacctg tcgattcctg ctgtgttttt
      601 cttgaggaac attccatgtg atttagactt taagggcaca cagtgtccaa acccttcctc
      661 ctatattcct agattactaa cgaccaattc agaccacatg acattcctgc aaagggtcaa
      721 gaacatgctc taccctctgg ccctgtccta cctttgccat gctgtttctg ctccttatgc
      781 aagccttgcc tctgagcttt ttcagagaga ggtgtcagtg gtggatcttg tcagccatgc
      841 atctgtgtgg ctgttccgag gggactttgt gatggattac 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
//
