LOCUS       NM_015554               5044 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens glucuronic acid epimerase (GLCE), transcript variant
            1, mRNA.
ACCESSION   NM_015554 XM_290631
VERSION     NM_015554.3
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 5044)
  AUTHORS   Jiang,J., Zhan,X., Xu,G., Liang,T., Yu,C., Liao,S., Chen,L.,
            Huang,S., Sun,X., Yi,M., Zhang,Z., Yao,Y. and Liu,C.
  TITLE     Glycolysis- and immune-related novel prognostic biomarkers of
            Ewing's sarcoma: glucuronic acid epimerase and triosephosphate
            isomerase 1
  JOURNAL   Aging (Albany NY) 13 (13), 17516-17535 (2021)
   PUBMED   34233293
  REMARK    GeneRIF: Glycolysis- and immune-related novel prognostic biomarkers
            of Ewing's sarcoma: glucuronic acid epimerase and triosephosphate
            isomerase 1.
REFERENCE   2  (bases 1 to 5044)
  AUTHORS   Vaidyanathan,D., Paskaleva,E., Vargason,T., Ke,X., McCallum,S.A.,
            Linhardt,R.J. and Dordick,J.S.
  TITLE     Elucidating the unusual reaction kinetics of D-glucuronyl
            C5-epimerase
  JOURNAL   Glycobiology 30 (11), 847-858 (2020)
   PUBMED   32304324
  REMARK    GeneRIF: Elucidating the unusual reaction kinetics of D-glucuronyl
            C5-epimerase.
REFERENCE   3  (bases 1 to 5044)
  AUTHORS   Liachko,N.F., Saxton,A.D., McMillan,P.J., Strovas,T.J., Keene,C.D.,
            Bird,T.D. and Kraemer,B.C.
  TITLE     Genome wide analysis reveals heparan sulfate epimerase modulates
            TDP-43 proteinopathy
  JOURNAL   PLoS Genet 15 (12), e1008526 (2019)
   PUBMED   31834878
  REMARK    GeneRIF: Results found the expression of GLCE is significantly
            decreased in the brains of frontotemporal lobar degeneration cases
            relative to normal controls, demonstrating the potential disease
            relevance of the candidate gene identified. Furthermore, knockdown
            of GLCE in cultured human cells protects against oxidative stress
            induced pTDP accumulation.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5044)
  AUTHORS   Debarnot,C., Monneau,Y.R., Roig-Zamboni,V., Delauzun,V., Le
            Narvor,C., Richard,E., Henault,J., Goulet,A., Fadel,F., Vives,R.R.,
            Priem,B., Bonnaffe,D., Lortat-Jacob,H. and Bourne,Y.
  TITLE     Substrate binding mode and catalytic mechanism of human heparan
            sulfate d-glucuronyl C5 epimerase
  JOURNAL   Proc Natl Acad Sci U S A 116 (14), 6760-6765 (2019)
   PUBMED   30872481
  REMARK    GeneRIF: Substrate binding mode and catalytic mechanism of human
            heparan sulfate d-glucuronyl C5 epimerase.
REFERENCE   5  (bases 1 to 5044)
  AUTHORS   Belyavskaya,V.A., Prudnikova,T.Y., Domanitskaya,N.V.,
            Litviakov,N.V., Maksimov,V.N., Cherdyntseva,N.V. and
            Grigorieva,E.V.
  TITLE     GLCE rs3865014 (Val597Ile) polymorphism is associated with breast
            cancer susceptibility and triple-negative breast cancer in Siberian
            population
  JOURNAL   Gene 628, 224-229 (2017)
   PUBMED   28734894
  REMARK    GeneRIF: The obtained data suggest an involvement of GLCE rs3865014
            in breast cancer development. Heterozygous AG genotype might be a
            risk factor for breast cancer susceptibility in Siberian women and
            is associated with aggressive ER-negative and triple-negative
            cancer subtypes.
REFERENCE   6  (bases 1 to 5044)
  AUTHORS   Grigorieva,E., Eshchenko,T., Rykova,V.I., Chernakov,A.,
            Zabarovsky,E. and Sidorov,S.V.
  TITLE     Decreased expression of human D-glucuronyl C5-epimerase in breast
            cancer
  JOURNAL   Int J Cancer 122 (5), 1172-1176 (2008)
   PUBMED   17985344
  REMARK    GeneRIF: in 82-84% of human breast tumors there is either
            downregulation or loss of D-glucuronyl C5-epimerase mRNA expression
            and significant decrease of the protein content
REFERENCE   7  (bases 1 to 5044)
  AUTHORS   Ghiselli,G. and Agrawal,A.
  TITLE     The human D-glucuronyl C5-epimerase gene is transcriptionally
            activated through the beta-catenin-TCF4 pathway
  JOURNAL   Biochem J 390 (Pt 2), 493-499 (2005)
   PUBMED   15853773
  REMARK    GeneRIF: The regulation of GLCE expression by 2 cis-acting elements
            of the beta-catenin-TCF4 complex located in the enhancer region of
            the promoter are reported.
REFERENCE   8  (bases 1 to 5044)
  AUTHORS   Hagner-McWhirter,A., Li,J.P., Oscarson,S. and Lindahl,U.
  TITLE     Irreversible glucuronyl C5-epimerization in the biosynthesis of
            heparan sulfate
  JOURNAL   J Biol Chem 279 (15), 14631-14638 (2004)
   PUBMED   14718527
REFERENCE   9  (bases 1 to 5044)
  AUTHORS   Crawford,B.E., Olson,S.K., Esko,J.D. and Pinhal,M.A.
  TITLE     Cloning, Golgi localization, and enzyme activity of the full-length
            heparin/heparan sulfate-glucuronic acid C5-epimerase
  JOURNAL   J Biol Chem 276 (24), 21538-21543 (2001)
   PUBMED   11279150
REFERENCE   10 (bases 1 to 5044)
  AUTHORS   Li,J.P., Gong,F., El Darwish,K., Jalkanen,M. and Lindahl,U.
  TITLE     Characterization of the D-glucuronyl C5-epimerase involved in the
            biosynthesis of heparin and heparan sulfate
  JOURNAL   J Biol Chem 276 (23), 20069-20077 (2001)
   PUBMED   11274177
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC026512.6 and AC026992.12.
            
            On Nov 22, 2018 this sequence version replaced NM_015554.2.
            
            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 :: SRR1660803.100227.1,
                                           SRR1660803.14833.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261858.7/ ENSP00000261858.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-123               AC026512.6         67726-67848
            124-214             AC026992.12        39291-39381
            215-813             AC026992.12        84769-85367
            814-1056            AC026992.12        90062-90304
            1057-5044           AC026992.12        97195-101182
FEATURES             Location/Qualifiers
     source          1..5044
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q23"
     gene            1..5044
                     /gene="GLCE"
                     /gene_synonym="HSEPI"
                     /note="glucuronic acid epimerase"
                     /db_xref="GeneID:26035"
                     /db_xref="HGNC:HGNC:17855"
                     /db_xref="MIM:612134"
     exon            1..123
                     /gene="GLCE"
                     /gene_synonym="HSEPI"
                     /inference="alignment:Splign:2.1.0"
     exon            124..214
                     /gene="GLCE"
                     /gene_synonym="HSEPI"
                     /inference="alignment:Splign:2.1.0"
     exon            215..813
                     /gene="GLCE"
                     /gene_synonym="HSEPI"
                     /inference="alignment:Splign:2.1.0"
     CDS             228..2081
                     /gene="GLCE"
                     /gene_synonym="HSEPI"
                     /EC_number="5.1.3.17"
                     /note="isoform 1 is encoded by transcript variant 1;
                     heparan sulfate epimerase; glucuronyl C5-epimerase;
                     UDP-glucuronic acid epimerase; D-glucuronyl C5-epimerase;
                     heparin/heparan sulfate-glucuronic acid C5-epimerase;
                     heparan sulfate C5-epimerase;
                     heparosan-N-sulfate-glucuronate 5-epimerase"
                     /codon_start=1
                     /product="D-glucuronyl C5-epimerase isoform 1"
                     /protein_id="NP_056369.1"
                     /db_xref="CCDS:CCDS32277.1"
                     /db_xref="GeneID:26035"
                     /db_xref="HGNC:HGNC:17855"
                     /db_xref="MIM:612134"
                     /translation="MRCLAARVNYKTLIIICALFTLVTVLLWNKCSSDKAIQFPRRSS
                     SGFRVDGFEKRAAASESNNYMNHVAKQQSEEAFPQEQQKAPPVVGGFNSNVGSKVLGL
                     KYEEIDCLINDEHTIKGRREGNEVFLPFTWVEKYFDVYGKVVQYDGYDRFEFSHSYSK
                     VYAQRAPYHPDGVFMSFEGYNVEVRDRVKCISGVEGVPLSTQWGPQGYFYPIQIAQYG
                     LSHYSKNLTEKPPHIEVYETAEDRDKNKPNDWTVPKGCFMANVADKSRFTNVKQFIAP
                     ETSEGVSLQLGNTKDFIISFDLKFLTNGSVSVVLETTEKNQLFTIHYVSNAQLIAFKE
                     RDIYYGIGPRTSWSTVTRDLVTDLRKGVGLSNTKAVKPTKIMPKKVVRLIAKGKGFLD
                     NITISTTAHMAAFFAASDWLVRNQDEKGGWPIMVTRKLGEGFKSLEPGWYSAMAQGQA
                     ISTLVRAYLLTKDHIFLNSALRATAPYKFLSEQHGVKAVFMNKHDWYEEYPTTPSSFV
                     LNGFMYSLIGLYDLKETAGEKLGKEARSLYERGMESLKAMLPLYDTGSGTIYDLRHFM
                     LGIAPNLARWDYHTTHINQLQLLSTIDESPVFKEFVKRWKSYLKGSRAKHN"
     exon            814..1056
                     /gene="GLCE"
                     /gene_synonym="HSEPI"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..5044
                     /gene="GLCE"
                     /gene_synonym="HSEPI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5020..5025
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLCE"
                     /gene_synonym="HSEPI"
                     /note="hexamer: AATAAA"
     polyA_site      5044
                     /gene="GLCE"
                     /gene_synonym="HSEPI"
                     /note="major polyA site"
ORIGIN      
        1 acacaagcgc ttccttgccg agaggctgga gctgcggcac cgcaggcctg agccacccct
       61 tctctgctgt ctccttctct tcctcagggc tcccgtgtct gctcgccctc cgacgctgct
      121 caggaatttg acaagaaact gaagttttga ttcagatata ttttgaattg aaaccagaga
      181 tgttctagag tttagattct ttcatttgat taaggtatgg tctgaatatg cgttgcttgg
      241 cagctcgggt caactataag actttgatta ttatctgcgc actcttcact ttggtcacag
      301 tacttttgtg gaataagtgt tccagtgaca aagcaatcca gtttccacgg cgttcgagta
      361 gtggcttcag agtggatggg tttgaaaaaa gagcagcagc atctgagagt aacaactata
      421 tgaaccacgt ggccaaacaa cagtctgagg aagcattccc tcaggaacag cagaaagcac
      481 cccctgttgt tgggggcttc aatagcaatg tgggaagtaa ggtgttaggg ctcaaatatg
      541 aagaaattga ctgtctcata aatgatgaac acacaattaa agggagacga gaggggaacg
      601 aagtctttct tccattcact tgggttgaga aatattttga tgtttatgga aaggtggttc
      661 agtatgatgg ctatgatcgg tttgaattct ctcatagcta ttccaaagtc tatgcacaga
      721 gagcccccta tcaccccgat ggtgtgttta tgtcttttga aggctacaat gtggaagtcc
      781 gagacagagt caagtgcata agtggggttg aaggtgtgcc attatctaca caatggggac
      841 ctcaaggcta tttctatcca atccagattg cacagtatgg attaagtcat tacagcaaga
      901 atctaactga gaaacctcct cacatagagg tatatgaaac agcagaagac agagacaaaa
      961 acaagcctaa tgactggact gtgccaaagg gctgctttat ggcgaatgtg gctgataagt
     1021 ctagattcac caatgtcaaa cagtttattg caccagaaac cagtgaaggt gtatccttgc
     1081 aactgggaaa cacaaaagat tttattattt catttgacct caagttcttg acaaatggaa
     1141 gtgtgtccgt ggttctagag accacagaaa agaatcagct cttcactata cattatgtct
     1201 caaatgctca gctaattgct tttaaagaaa gagatatata ctatggcatt gggcccagaa
     1261 cttcatggag cacagttacc agggacctgg tcactgacct caggaaagga gtgggtcttt
     1321 caaacacaaa agctgtcaag ccaaccaaaa taatgcccaa gaaggtggtt aggttgattg
     1381 caaaaggtaa gggattcctc gacaacatta ccatctctac cacagcccac atggctgcat
     1441 tttttgctgc tagtgattgg ctagtaagga accaggatga gaaaggtggc tggccaatta
     1501 tggtgacccg taagttaggg gaagggttca agtctttaga gccaggatgg tattctgcca
     1561 tggcccaagg gcaagccatt tctacattag tcagggccta tctgttaaca aaagaccata
     1621 tattcctcaa ttcagcttta agggcaacag ccccttataa gtttctatct gagcagcatg
     1681 gagttaaagc tgtgtttatg aataaacatg actggtatga agaatatcca accacaccta
     1741 gctcttttgt tttaaatggc tttatgtatt ctttaattgg gctgtatgac ttaaaagaaa
     1801 ctgcagggga aaaactcgga aaagaagcaa ggtccttgta tgagcgtggc atggaatctc
     1861 ttaaagccat gctgcccttg tatgacactg gctcaggaac catctatgac ctccgtcact
     1921 tcatgcttgg catcgctcct aacctggctc gctgggacta tcataccacc cacatcaatc
     1981 agttgcagct actcagtacc attgatgagt ccccagtctt caaagaattt gtcaagaggt
     2041 ggaaaagcta ccttaaaggc agcagggcaa agcacaacta gagctcacaa ccaaaactgc
     2101 acttcagcct ctgctgtaca cagaaactac aggctctgtc tcaggagagc ataggcacat
     2161 tttaaaaggt tatgtactag gtttttgtgg attctatcaa agtgataagt gatccttaaa
     2221 accagccttc taaaataatt gcattccatg ggttgggtat ttagaaatgt aggtggcatt
     2281 tagaacacaa tgtttaatca atgggctgaa caaagatgct tcactttgcc ttgcccatca
     2341 ccctatacag tttcgcagat agtctagtca ctctatgtga gaaagataat ggtaagtagt
     2401 tgctactggc caactgtcta gcacttacct gaaaacttag tatggagctc ttttaaaatg
     2461 tgattattta tatttatgtt gaaagcggac tttaaaaaaa ataatgtgct gtaacacagt
     2521 aaatatgtac ttgtagcctg gatagcagac tgtgttcaac tttttaaaaa gatgtttcct
     2581 ttctaaagat taatttcttg ggagcaaatg agtatttgtt gcatttgttc aatttgttgt
     2641 atatggtgaa tatttaatta tggttttctt gaaacgtgta aattaaaaac acaatcagtg
     2701 ttcaggcttc agttatataa tgtaagcaca actaaaatga aacttgttga ctgcacaaga
     2761 aattacaaaa atgtttctgt tttgaaactt gatctacaat cagtaaaagt ttgataatca
     2821 gtatatccct tcccaacccc cattgtgaca gtttcttttt gtcactgtct agaattttgt
     2881 attttatttc agactatacc ttggagtttt gtatattttg agagagatat ttttgggaca
     2941 ttattttgga aacttattac aaatctaaat ttggaaagga gctagtagct ttaaggccac
     3001 caccatattt tactttttta ggatttttcc ccctttaaat aaaaatatta gatcaaatac
     3061 tatatgcaag aaatcatagc aaagtttttt tttcctacca agatcattct tgatcatcag
     3121 cttcccaaac tagtaagtct gtgcatcatt gggtgttttt ttttaattta attttaaatt
     3181 atcccagcta ttagatagaa gggatgttac tgcacttatg tgtaatcaga tctttattta
     3241 ggtatacata tcctcctata ccgcacataa atagatttca gagcccccat acaatgggca
     3301 gtgtctgcta tagggcttca ggcattaaat aaaaccgagg gttgttgatt ttgctgtgac
     3361 agtacactaa atcaatacta tatcttatac agtttgaaaa tatgataccc tacactttca
     3421 ggggaccgag tctgacaaac acaatacatt tatctgtgac ctatatcaag tacacattta
     3481 ggagccaggt aggttacctg cttacacact atattttaat tgaattcaaa ctatcaagca
     3541 ctacttagaa actggaaaac atatatatgt tagcatcaaa gggggcagaa gcaaagaaga
     3601 tacagatctg cactgaagac attagactgg ccatagaaaa gtaagcttga actcccaatt
     3661 gatgtgacca cactcttctt aattttgttc acagtaaaaa cacttttttg agttattagg
     3721 cttaccccta gcttttgacc tttgcatttc atatatgtta gatgtctcag caagaatatc
     3781 tggtctcccc taatttttat tcccagtgcc gatgttcaaa ataaactttc tccagtctgg
     3841 gaaccttttt tacttcccca tatttgttat tatttagaat ggttcatacg tctgctttgt
     3901 ttgcatactg gtcttcagat tatgagactc gatgataaca gtatggtact gcttctgtga
     3961 caaatatcgt gccttaacaa tgtggctgtc cttttccact gaagaaggaa agacgttttg
     4021 atctagaaat agcgttgtga tttccttgct gttggtttta cactgccttc cacattgcaa
     4081 cagcaagttg atttcttgtg atcccagaat tttctaagag gatgagttga atctatagca
     4141 gcattgtcag tacagaccag tggttctcaa actttaaaat gcctcagcat cacttgggag
     4201 cttattgaaa tgcagatccc agagtcagta aatctgcctg tgaagtatga tagtctgcat
     4261 ttgtaatgag cattcaagtg attctgatgc aggtgagctg ggggcataca gggaggaaca
     4321 ctgccctgga ctatccattg catttttgcc tctaaacaac tacagaattt tctagggttt
     4381 taaattatgt aaaatgttta cttattctga gcttagagag aatggggagg gtatttttaa
     4441 attttattgt tttatttctt taagtttttc tttgctttaa gattataggt attaggtttg
     4501 tttttgtttt tccacttatc ttgagttcac tttgatgtta aatctattgc tacttcagtt
     4561 gtaaaaccag ccaaaagttt ctggatgaag gtcaagtttg accttttagg agttattgta
     4621 cataaaggct tcatccacga accatccagc gcacagaagc aagtgcaaaa atgacacaag
     4681 cacaactctc cagacgtggc tccttctcct ttctcagtgc agactctcac tgaaagctgc
     4741 tattttcatc ctccttgtgg ttgcttttct tgtttctctt ccattgtaca tgtgggttat
     4801 ataccatatg ttaaatatgc aataaagtgt ttacaggatg cccttctgaa gggtagtcct
     4861 ttgtaaagct gtacagactt tgcagtttaa gcacaatgtg cacatgttag ttttatatac
     4921 agcaaaactt gattttttgc agatggaaag gtattttgtt tctatacaaa gtaaatggat
     4981 tgtttgtgct taatgtaaag ccgctttata aaactgtaaa ataaagtttt tttcttaaaa
     5041 agaa
//
