LOCUS       NM_001253875            2053 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript
            variant 1, mRNA.
ACCESSION   NM_001253875
VERSION     NM_001253875.2
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 2053)
  AUTHORS   Brewer,G.
  TITLE     UXS1: a sweet spot for cell death
  JOURNAL   Nat Rev Cancer 24 (1), 3 (2024)
   PUBMED   38030856
  REMARK    GeneRIF: UXS1: a sweet spot for cell death.
REFERENCE   2  (bases 1 to 2053)
  AUTHORS   Walsh,R.M. Jr., Polizzi,S.J., Kadirvelraj,R., Howard,W.W. and
            Wood,Z.A.
  TITLE     Man o' war mutation in UDP-alpha-D-xylose synthase favors the
            abortive catalytic cycle and uncovers a latent potential for
            hexamer formation
  JOURNAL   Biochemistry 54 (3), 807-819 (2015)
   PUBMED   25521717
  REMARK    GeneRIF: The persistence of a latent hexamer-building interface in
            the human enzyme suggests that the ancestral UXS may have been a
            hexamer.
REFERENCE   3  (bases 1 to 2053)
  AUTHORS   Polizzi,S.J., Walsh,R.M. Jr., Le Magueres,P., Criswell,A.R. and
            Wood,Z.A.
  TITLE     Human UDP-alpha-d-xylose synthase forms a catalytically important
            tetramer that has not been observed in crystal structures
  JOURNAL   Biochemistry 52 (22), 3888-3898 (2013)
   PUBMED   23656592
  REMARK    GeneRIF: hUXS forms a tetramer in solution that is important for
            activity. The higher activity of the tetramer coupled with the
            relative instability of the dimeric complex suggests that an
            association-dissociation mechanism may regulate hUXS activity.
REFERENCE   4  (bases 1 to 2053)
  AUTHORS   Polizzi,S.J., Walsh,R.M. Jr., Peeples,W.B., Lim,J.M., Wells,L. and
            Wood,Z.A.
  TITLE     Human UDP-alpha-D-xylose synthase and Escherichia coli ArnA
            conserve a conformational shunt that controls whether xylose or
            4-keto-xylose is produced
  JOURNAL   Biochemistry 51 (44), 8844-8855 (2012)
   PUBMED   23072385
REFERENCE   5  (bases 1 to 2053)
  AUTHORS   Eixelsberger,T., Sykora,S., Egger,S., Brunsteiner,M.,
            Kavanagh,K.L., Oppermann,U., Brecker,L. and Nidetzky,B.
  TITLE     Structure and mechanism of human UDP-xylose synthase: evidence for
            a promoting role of sugar ring distortion in a three-step catalytic
            conversion of UDP-glucuronic acid
  JOURNAL   J Biol Chem 287 (37), 31349-31358 (2012)
   PUBMED   22810237
REFERENCE   6  (bases 1 to 2053)
  AUTHORS   Persson,B., Kallberg,Y., Bray,J.E., Bruford,E., Dellaporta,S.L.,
            Favia,A.D., Duarte,R.G., Jornvall,H., Kavanagh,K.L., Kedishvili,N.,
            Kisiela,M., Maser,E., Mindnich,R., Orchard,S., Penning,T.M.,
            Thornton,J.M., Adamski,J. and Oppermann,U.
  TITLE     The SDR (short-chain dehydrogenase/reductase and related enzymes)
            nomenclature initiative
  JOURNAL   Chem Biol Interact 178 (1-3), 94-98 (2009)
   PUBMED   19027726
REFERENCE   7  (bases 1 to 2053)
  AUTHORS   Gonzalez-Begne,M., Lu,B., Han,X., Hagen,F.K., Hand,A.R.,
            Melvin,J.E. and Yates,J.R.
  TITLE     Proteomic analysis of human parotid gland exosomes by
            multidimensional protein identification technology (MudPIT)
  JOURNAL   J Proteome Res 8 (3), 1304-1314 (2009)
   PUBMED   19199708
REFERENCE   8  (bases 1 to 2053)
  AUTHORS   Bakker,H., Oka,T., Ashikov,A., Yadav,A., Berger,M., Rana,N.A.,
            Bai,X., Jigami,Y., Haltiwanger,R.S., Esko,J.D. and
            Gerardy-Schahn,R.
  TITLE     Functional UDP-xylose transport across the endoplasmic
            reticulum/Golgi membrane in a Chinese hamster ovary cell mutant
            defective in UDP-xylose Synthase
  JOURNAL   J Biol Chem 284 (4), 2576-2583 (2009)
   PUBMED   19028698
  REMARK    GeneRIF: Complementation was achieved by expression of a
            cytoplasmic variant of UDP-xylose Synthase, which proves the
            existence of a functional Golgi UDP-xylose transporter[UDP-xylose
            Synthase]
REFERENCE   9  (bases 1 to 2053)
  AUTHORS   Hwang,H.Y. and Horvitz,H.R.
  TITLE     The SQV-1 UDP-glucuronic acid decarboxylase and the SQV-7
            nucleotide-sugar transporter may act in the Golgi apparatus to
            affect Caenorhabditis elegans vulval morphogenesis and embryonic
            development
  JOURNAL   Proc Natl Acad Sci U S A 99 (22), 14218-14223 (2002)
   PUBMED   12391314
REFERENCE   10 (bases 1 to 2053)
  AUTHORS   Moriarity,J.L., Hurt,K.J., Resnick,A.C., Storm,P.B., Laroy,W.,
            Schnaar,R.L. and Snyder,S.H.
  TITLE     UDP-glucuronate decarboxylase, a key enzyme in proteoglycan
            synthesis: cloning, characterization, and localization
  JOURNAL   J Biol Chem 277 (19), 16968-16975 (2002)
   PUBMED   11877387
  REMARK    GeneRIF: UDP-glucuronate decarboxylase, a key enzyme in
            proteoglycan synthesis: cloning, characterization, and
            localization.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC018878.8.
            
            On Jan 16, 2020 this sequence version replaced NM_001253875.1.
            
            Summary: This gene encodes an enzyme found in the perinuclear Golgi
            which catalyzes the synthesis of UDP-xylose used in
            glycosaminoglycan (GAG) synthesis on proteoglycans. The GAG chains
            are covalently attached to proteoglycans which participate in
            signaling pathways during development. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Dec 2014].
            
            Transcript Variant: This variant (1) encodes the longest protein
            (isoform 1).
            
            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 :: AK075170.1, AK290668.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000283148.12/ ENSP00000283148.7
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-154               AC018878.8         164932-165085       c
            155-182             AC018878.8         136840-136867       c
            183-246             AC018878.8         135520-135583       c
            247-290             AC018878.8         134451-134494       c
            291-351             AC018878.8         128842-128902       c
            352-532             AC018878.8         115974-116154       c
            533-637             AC018878.8         100458-100562       c
            638-697             AC018878.8         96404-96463         c
            698-819             AC018878.8         93754-93875         c
            820-939             AC018878.8         83430-83549         c
            940-983             AC018878.8         75578-75621         c
            984-1044            AC018878.8         71842-71902         c
            1045-1102           AC018878.8         69500-69557         c
            1103-1206           AC018878.8         67502-67605         c
            1207-2053           AC018878.8         64095-64941         c
FEATURES             Location/Qualifiers
     source          1..2053
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q12.2"
     gene            1..2053
                     /gene="UXS1"
                     /gene_synonym="hUXS; hUXS1; SDR6E1; UGD"
                     /note="UDP-glucuronate decarboxylase 1"
                     /db_xref="GeneID:80146"
                     /db_xref="HGNC:HGNC:17729"
                     /db_xref="MIM:609749"
     exon            1..154
                     /gene="UXS1"
                     /gene_synonym="hUXS; hUXS1; SDR6E1; UGD"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..1338
                     /gene="UXS1"
                     /gene_synonym="hUXS; hUXS1; SDR6E1; UGD"
                     /EC_number="4.1.1.35"
                     /note="isoform 1 is encoded by transcript variant 1; short
                     chain dehydrogenase/reductase family 6E, member 12;
                     UDP-glucuronic acid decarboxylase 1; UXS-1"
                     /codon_start=1
                     /product="UDP-glucuronic acid decarboxylase 1 isoform 1"
                     /protein_id="NP_001240804.1"
                     /db_xref="CCDS:CCDS58721.1"
                     /db_xref="GeneID:80146"
                     /db_xref="HGNC:HGNC:17729"
                     /db_xref="MIM:609749"
                     /translation="MVSKALLRLVSAVNRRRMKLLLGIALLAYVASVWGNFVNMSFLL
                     NRSIQENGELKIESKIEEMVEPLREKIRDLEKSFTQKYPPVKFLSEKDRKRILITGGA
                     GFVGSHLTDKLMMDGHEVTVVDNFFTGRKRNVEHWIGHENFELINHDVVEPLYIEVDQ
                     IYHLASPASPPNYMYNPIKTLKTNTIGTLNMLGLAKRVGARLLLASTSEVYGDPEVHP
                     QSEDYWGHVNPIGPRACYDEGKRVAETMCYAYMKQEGVEVRVARIFNTFGPRMHMNDG
                     RVVSNFILQALQGEPLTVYGSGSQTRAFQYVSDLVNGLVALMNSNVSSPVNLGNPEEH
                     TILEFAQLIKNLVGSGSEIQFLSEAQDDPQKRKPDIKKAKLMLGWEPVVPLEEGLNKA
                     IHYFRKELEYQANNQYIPKPKPARIKKGRTRHS"
     exon            155..182
                     /gene="UXS1"
                     /gene_synonym="hUXS; hUXS1; SDR6E1; UGD"
                     /inference="alignment:Splign:2.1.0"
     exon            183..246
                     /gene="UXS1"
                     /gene_synonym="hUXS; hUXS1; SDR6E1; UGD"
                     /inference="alignment:Splign:2.1.0"
     exon            247..290
                     /gene="UXS1"
                     /gene_synonym="hUXS; hUXS1; SDR6E1; UGD"
                     /inference="alignment:Splign:2.1.0"
     exon            291..351
                     /gene="UXS1"
                     /gene_synonym="hUXS; hUXS1; SDR6E1; UGD"
                     /inference="alignment:Splign:2.1.0"
     exon            352..532
                     /gene="UXS1"
                     /gene_synonym="hUXS; hUXS1; SDR6E1; UGD"
                     /inference="alignment:Splign:2.1.0"
     exon            533..637
                     /gene="UXS1"
                     /gene_synonym="hUXS; hUXS1; SDR6E1; UGD"
                     /inference="alignment:Splign:2.1.0"
     exon            638..697
                     /gene="UXS1"
                     /gene_synonym="hUXS; hUXS1; SDR6E1; UGD"
                     /inference="alignment:Splign:2.1.0"
     exon            698..819
                     /gene="UXS1"
                     /gene_synonym="hUXS; hUXS1; SDR6E1; UGD"
                     /inference="alignment:Splign:2.1.0"
     exon            820..939
                     /gene="UXS1"
                     /gene_synonym="hUXS; hUXS1; SDR6E1; UGD"
                     /inference="alignment:Splign:2.1.0"
     exon            940..983
                     /gene="UXS1"
                     /gene_synonym="hUXS; hUXS1; SDR6E1; UGD"
                     /inference="alignment:Splign:2.1.0"
     exon            984..1044
                     /gene="UXS1"
                     /gene_synonym="hUXS; hUXS1; SDR6E1; UGD"
                     /inference="alignment:Splign:2.1.0"
     exon            1045..1102
                     /gene="UXS1"
                     /gene_synonym="hUXS; hUXS1; SDR6E1; UGD"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..1206
                     /gene="UXS1"
                     /gene_synonym="hUXS; hUXS1; SDR6E1; UGD"
                     /inference="alignment:Splign:2.1.0"
     exon            1207..2053
                     /gene="UXS1"
                     /gene_synonym="hUXS; hUXS1; SDR6E1; UGD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2032..2037
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UXS1"
                     /gene_synonym="hUXS; hUXS1; SDR6E1; UGD"
                     /note="hexamer: AATAAA"
     polyA_site      2053
                     /gene="UXS1"
                     /gene_synonym="hUXS; hUXS1; SDR6E1; UGD"
                     /note="major polyA site"
ORIGIN      
        1 gcattgtgca gcaggcgggc ccccgcgcgg tagggccctg gacccgcgcg gctcccgggg
       61 atggtgagca aggcgctgct gcgcctcgtg tctgccgtca accgcaggag gatgaagctg
      121 ctgctgggca tcgccttgct ggcctacgtc gcctctgttt ggggcaactt cgttaatatg
      181 agctttctac tcaacaggtc tatccaggaa aatggtgaac taaaaattga aagcaagatt
      241 gaagagatgg ttgaaccact aagagagaaa atcagagatt tagaaaaaag ctttacccag
      301 aaatacccac cagtaaagtt tttatcagaa aaggatcgga aaagaatttt gataacagga
      361 ggcgcagggt tcgtgggctc ccatctaact gacaaactca tgatggacgg ccacgaggtg
      421 accgtggtgg acaatttctt cacgggcagg aagagaaacg tggagcactg gatcggacat
      481 gagaacttcg agttgattaa ccacgacgtg gtggagcccc tctacatcga ggttgaccag
      541 atataccatc tggcatctcc agcctcccct ccaaactaca tgtataatcc tatcaagaca
      601 ttaaagacca atacgattgg gacattaaac atgttggggc tggcaaaacg agtcggtgcc
      661 cgtctgctcc tggcctccac atcggaggtg tatggagatc ctgaagtcca ccctcaaagt
      721 gaggattact ggggccacgt gaatccaata ggacctcggg cctgctacga tgaaggcaaa
      781 cgtgttgcag agaccatgtg ctatgcctac atgaagcagg aaggcgtgga agtgcgagtg
      841 gccagaatct tcaacacctt tgggccacgc atgcacatga acgatgggcg agtagtcagc
      901 aacttcatcc tgcaggcgct ccagggggag ccactcacgg tatacggatc cgggtctcag
      961 acaagggcgt tccagtacgt cagcgatcta gtgaatggcc tcgtggctct catgaacagc
     1021 aacgtcagca gcccggtcaa cctggggaac ccagaagaac acacaatcct agaatttgct
     1081 cagttaatta aaaaccttgt tggtagcgga agtgaaattc agtttctctc cgaagcccag
     1141 gatgacccac agaaaagaaa accagacatc aaaaaagcaa agctgatgct ggggtgggag
     1201 cccgtggtcc cgctggagga aggtttaaac aaagcaattc actacttccg taaagaactc
     1261 gagtaccagg caaataatca gtacatcccc aaaccaaagc ctgccagaat aaagaaagga
     1321 cggactcgcc acagctgaac tcctcacttt taggacacaa gactaccatt gtacacttga
     1381 tgggatgtat ttttggcttt tttttgttgt cgtttaaaga aagactttaa caggtgtcat
     1441 gaagaacaaa ctggaatttc attctgaagc ttgctttaat gaaatggatg tgcctaaaag
     1501 ctcccctcaa aaaactgcag attttgcctt gcactttttg aatctctctt tttatgtaaa
     1561 atagcgtaga tgcatctctg cgtattttca agttttttta tcttgctgtg agagcatatg
     1621 ttgtgactgt cgttgacagt tttatttact ggtttctttg tgaagctgaa aaggaacatt
     1681 aagcgggaca aaaaatgccg attttattta tgaaagtggg tacttaataa atgagtcgtt
     1741 atactatgca taaagaaaaa tcctagcagt attgtcaggt ggtggtgcgc cggcattgat
     1801 tttagggcag ataaaagaat tctgtgtgag agctttatgt ttctctttta attcagagtt
     1861 tttccaaggt ctacttttga gttgcaaact tgactttgaa atattcctgt tggtcatgat
     1921 caaggatatt tgaaatcact actgtgtttt gctgcgtatc tggggcgggg gcaggttggg
     1981 gggcacaaag ttaacatatt cttggttaac catggttaaa tatgctattt taataaatta
     2041 ttgaaactca cca
//
