LOCUS       NM_006759               2150 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens UDP-glucose pyrophosphorylase 2 (UGP2), transcript
            variant 1, mRNA.
ACCESSION   NM_006759
VERSION     NM_006759.4
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 2150)
  AUTHORS   Wolfe,A.L., Zhou,Q., Toska,E., Galeas,J., Ku,A.A., Koche,R.P.,
            Bandyopadhyay,S., Scaltriti,M., Lebrilla,C.B., McCormick,F. and
            Kim,S.E.
  TITLE     UDP-glucose pyrophosphorylase 2, a regulator of glycogen synthesis
            and glycosylation, is critical for pancreatic cancer growth
  JOURNAL   Proc Natl Acad Sci U S A 118 (31) (2021)
   PUBMED   34330832
  REMARK    GeneRIF: UDP-glucose pyrophosphorylase 2, a regulator of glycogen
            synthesis and glycosylation, is critical for pancreatic cancer
            growth.
REFERENCE   2  (bases 1 to 2150)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2150)
  AUTHORS   Hu,Q., Shen,S., Li,J., Liu,L., Liu,X., Zhang,Y., Zhou,Y., Zhu,W.,
            Yu,Y. and Cui,G.
  TITLE     Low UGP2 Expression Is Associated with Tumour Progression and
            Predicts Poor Prognosis in Hepatocellular Carcinoma
  JOURNAL   Dis Markers 2020, 3231273 (2020)
   PUBMED   32733617
  REMARK    GeneRIF: Low UGP2 Expression Is Associated with Tumour Progression
            and Predicts Poor Prognosis in Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2150)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2150)
  AUTHORS   Durrant,C., Fuehring,J.I., Willemetz,A., Chretien,D., Sala,G.,
            Ghidoni,R., Katz,A., Rotig,A., Thelestam,M., Ermonval,M. and
            Moore,S.E.H.
  TITLE     Defects in Galactose Metabolism and Glycoconjugate Biosynthesis in
            a UDP-Glucose Pyrophosphorylase-Deficient Cell Line Are Reversed by
            Adding Galactose to the Growth Medium
  JOURNAL   Int J Mol Sci 21 (6), 2028 (2020)
   PUBMED   32188137
  REMARK    GeneRIF: Defects in Galactose Metabolism and Glycoconjugate
            Biosynthesis in a UDP-Glucose Pyrophosphorylase-Deficient Cell Line
            Are Reversed by Adding Galactose to the Growth Medium.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2150)
  AUTHORS   Wistow,G., Bernstein,S.L., Wyatt,M.K., Fariss,R.N., Behal,A.,
            Touchman,J.W., Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of human RPE/choroid for the
            NEIBank Project: over 6000 non-redundant transcripts, novel genes
            and splice variants
  JOURNAL   Mol Vis 8, 205-220 (2002)
   PUBMED   12107410
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2150)
  AUTHORS   Chang,H.Y., Peng,H.L., Chao,Y.C. and Duggleby,R.G.
  TITLE     The importance of conserved residues in human liver UDPglucose
            pyrophosphorylase
  JOURNAL   Eur J Biochem 236 (2), 723-728 (1996)
   PUBMED   8612650
REFERENCE   8  (bases 1 to 2150)
  AUTHORS   Duggleby,R.G., Chao,Y.C., Huang,J.G., Peng,H.L. and Chang,H.Y.
  TITLE     Sequence differences between human muscle and liver cDNAs for
            UDPglucose pyrophosphorylase and kinetic properties of the
            recombinant enzymes expressed in Escherichia coli
  JOURNAL   Eur J Biochem 235 (1-2), 173-179 (1996)
   PUBMED   8631325
REFERENCE   9  (bases 1 to 2150)
  AUTHORS   Peng,H.L. and Chang,H.Y.
  TITLE     Cloning of a human liver UDP-glucose pyrophosphorylase cDNA by
            complementation of the bacterial galU mutation
  JOURNAL   FEBS Lett 329 (1-2), 153-158 (1993)
   PUBMED   8354390
REFERENCE   10 (bases 1 to 2150)
  AUTHORS   Knop,J.K. and Hansen,R.G.
  TITLE     Uridine diphosphate glucose pyrophosphorylase. IV. Crystallization
            and properties of the enzyme from human liver
  JOURNAL   J Biol Chem 245 (10), 2499-2504 (1970)
   PUBMED   5427280
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC114748.4 and AC092588.2.
            
            On Jan 17, 2020 this sequence version replaced NM_006759.3.
            
            Summary: The enzyme encoded by this gene is an important
            intermediary in mammalian carbohydrate interconversions. It
            transfers a glucose moiety from glucose-1-phosphate to MgUTP and
            forms UDP-glucose and MgPPi. In liver and muscle tissue,
            UDP-glucose is a direct precursor of glycogen; in lactating mammary
            gland it is converted to UDP-galactose which is then converted to
            lactose. The eukaryotic enzyme has no significant sequence
            similarity to the prokaryotic enzyme. Two transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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 :: BC047004.1, SRR7346977.1095065.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000337130.10/ ENSP00000338703.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-309               AC114748.4         79988-80296
            310-437             AC114748.4         94398-94525
            438-545             AC114748.4         95921-96028
            546-731             AC114748.4         120558-120743
            732-865             AC114748.4         122052-122185
            866-1163            AC114748.4         123681-123978
            1164-1361           AC114748.4         124433-124630
            1362-1429           AC114748.4         125494-125561
            1430-1604           AC092588.2         1-175
            1605-1709           AC092588.2         2612-2716
            1710-2150           AC092588.2         3651-4091
FEATURES             Location/Qualifiers
     source          1..2150
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p15"
     gene            1..2150
                     /gene="UGP2"
                     /gene_synonym="DEE83; EIEE83; pHC379; SVUGP2; UDPG; UDPGP;
                     UDPGP2; UGP1; UGPP1; UGPP2"
                     /note="UDP-glucose pyrophosphorylase 2"
                     /db_xref="GeneID:7360"
                     /db_xref="HGNC:HGNC:12527"
                     /db_xref="MIM:191760"
     exon            1..309
                     /gene="UGP2"
                     /gene_synonym="DEE83; EIEE83; pHC379; SVUGP2; UDPG; UDPGP;
                     UDPGP2; UGP1; UGPP1; UGPP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             291..1817
                     /gene="UGP2"
                     /gene_synonym="DEE83; EIEE83; pHC379; SVUGP2; UDPG; UDPGP;
                     UDPGP2; UGP1; UGPP1; UGPP2"
                     /EC_number="2.7.7.9"
                     /note="isoform a is encoded by transcript variant 1;
                     UGPase 2; UTP-glucose-1-phosphate uridyltransferase;
                     testis tissue sperm-binding protein Li 58p; UDP-glucose
                     diphosphorylase; uridyl diphosphate glucose
                     pyrophosphorylase 2; UTP--glucose-1-phosphate
                     uridylyltransferase 2; UDP-glucose pyrophosphorylase 1;
                     Uridyl diphosphate glucose pyrophosphorylase-1"
                     /codon_start=1
                     /product="UTP--glucose-1-phosphate uridylyltransferase
                     isoform a"
                     /protein_id="NP_006750.3"
                     /db_xref="CCDS:CCDS1875.1"
                     /db_xref="GeneID:7360"
                     /db_xref="HGNC:HGNC:12527"
                     /db_xref="MIM:191760"
                     /translation="MSRFVQDLSKAMSQDGASQFQEVIRQELELSVKKELEKILTTAS
                     SHEFEHTKKDLDGFRKLFHRFLQEKGPSVDWGKIQRPPEDSIQPYEKIKARGLPDNIS
                     SVLNKLVVVKLNGGLGTSMGCKGPKSLIGVRNENTFLDLTVQQIEHLNKTYNTDVPLV
                     LMNSFNTDEDTKKILQKYNHCRVKIYTFNQSRYPRINKESLLPVAKDVSYSGENTEAW
                     YPPGHGDIYASFYNSGLLDTFIGEGKEYIFVSNIDNLGATVDLYILNHLMNPPNGKRC
                     EFVMEVTNKTRADVKGGTLTQYEGKLRLVEIAQVPKAHVDEFKSVSKFKIFNTNNLWI
                     SLAAVKRLQEQNAIDMEIIVNAKTLDGGLNVIQLETAVGAAIKSFENSLGINVPRSRF
                     LPVKTTSDLLLVMSNLYSLNAGSLTMSEKREFPTVPLVKLGSSFTKVQDYLRRFESIP
                     DMLELDHLTVSGDVTFGKNVSLKGTVIIIANHGDRIDIPPGAVLENKIVSGNLRILDH
                     "
     exon            310..437
                     /gene="UGP2"
                     /gene_synonym="DEE83; EIEE83; pHC379; SVUGP2; UDPG; UDPGP;
                     UDPGP2; UGP1; UGPP1; UGPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            438..545
                     /gene="UGP2"
                     /gene_synonym="DEE83; EIEE83; pHC379; SVUGP2; UDPG; UDPGP;
                     UDPGP2; UGP1; UGPP1; UGPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            546..731
                     /gene="UGP2"
                     /gene_synonym="DEE83; EIEE83; pHC379; SVUGP2; UDPG; UDPGP;
                     UDPGP2; UGP1; UGPP1; UGPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            732..865
                     /gene="UGP2"
                     /gene_synonym="DEE83; EIEE83; pHC379; SVUGP2; UDPG; UDPGP;
                     UDPGP2; UGP1; UGPP1; UGPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            866..1163
                     /gene="UGP2"
                     /gene_synonym="DEE83; EIEE83; pHC379; SVUGP2; UDPG; UDPGP;
                     UDPGP2; UGP1; UGPP1; UGPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1164..1361
                     /gene="UGP2"
                     /gene_synonym="DEE83; EIEE83; pHC379; SVUGP2; UDPG; UDPGP;
                     UDPGP2; UGP1; UGPP1; UGPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1362..1604
                     /gene="UGP2"
                     /gene_synonym="DEE83; EIEE83; pHC379; SVUGP2; UDPG; UDPGP;
                     UDPGP2; UGP1; UGPP1; UGPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1605..1709
                     /gene="UGP2"
                     /gene_synonym="DEE83; EIEE83; pHC379; SVUGP2; UDPG; UDPGP;
                     UDPGP2; UGP1; UGPP1; UGPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1710..2150
                     /gene="UGP2"
                     /gene_synonym="DEE83; EIEE83; pHC379; SVUGP2; UDPG; UDPGP;
                     UDPGP2; UGP1; UGPP1; UGPP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2133..2138
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UGP2"
                     /gene_synonym="DEE83; EIEE83; pHC379; SVUGP2; UDPG; UDPGP;
                     UDPGP2; UGP1; UGPP1; UGPP2"
                     /note="hexamer: AATAAA"
     polyA_site      2150
                     /gene="UGP2"
                     /gene_synonym="DEE83; EIEE83; pHC379; SVUGP2; UDPG; UDPGP;
                     UDPGP2; UGP1; UGPP1; UGPP2"
                     /note="major polyA site"
ORIGIN      
        1 gggagtctcc agctggccct catttgtgtc cggagctcag gagttcccaa accgactcag
       61 tcgcaccaag tttccgtctt ttggaattgg ggaaggagtt tctttctttc ttttcttttt
      121 tcttgagcca gttttaatcg ctttgaataa atactccctt aagtagttaa atataggagg
      181 agaaagaata catcggttgt taaagcagga gaggaagaga gacctgccct gtagcgtgac
      241 tcctctagaa aaaaaaaaaa aaagccggag tattttacta agcccctaaa atgtcgagat
      301 ttgtacaaga tcttagcaaa gcaatgtctc aagatggtgc ttctcagttc caagaagtca
      361 ttcggcaaga gctagaatta tctgtgaaga aggaactaga aaaaatactc accacagcat
      421 catcacatga atttgagcac accaaaaaag acctggatgg atttcggaag ctatttcata
      481 gatttttgca agaaaagggg ccttctgtgg attggggaaa aatccagaga ccccctgaag
      541 attcgattca accctatgaa aagataaagg ccaggggctt gcctgataat atatcttccg
      601 tgttgaacaa actagtggtg gtgaaactca atggtggttt gggaaccagc atgggctgca
      661 aaggccctaa aagtctgatt ggtgtgagga atgagaatac ctttctggat ctgactgttc
      721 agcaaattga acatttgaat aaaacctaca atacagatgt tcctcttgtt ttaatgaact
      781 cttttaacac ggatgaagat accaaaaaaa tactacagaa gtacaatcat tgtcgtgtga
      841 aaatctacac tttcaatcaa agcaggtacc cgaggattaa taaagaatct ttacttcctg
      901 tagcaaagga cgtgtcttac tcaggggaaa atacagaagc ttggtaccct ccaggtcatg
      961 gtgatattta cgccagtttc tacaactctg gattgcttga tacctttata ggagaaggca
     1021 aagagtatat ttttgtgtct aacatagata atctgggtgc cacagtggat ctgtatattc
     1081 ttaatcatct aatgaaccca cccaatggaa aacgctgtga atttgtcatg gaagtcacaa
     1141 ataaaacacg tgcagatgta aagggcggga cactcactca atatgaaggc aaactgagac
     1201 tggtggaaat tgctcaagtg ccaaaagcac atgtagacga gttcaagtct gtatcaaagt
     1261 tcaaaatatt taatacaaac aacctatgga tttctcttgc agcagttaaa agactgcagg
     1321 agcaaaatgc cattgacatg gaaatcattg tgaatgcaaa gactttggat ggaggcctga
     1381 atgtcattca attagaaact gcagtagggg ctgccatcaa aagttttgag aattctctag
     1441 gtattaatgt gccaaggagc cgttttctgc ctgtcaaaac cacatcagat ctcttgctgg
     1501 tgatgtcaaa cctctatagt cttaatgcag gatctctgac aatgagtgaa aagcgggaat
     1561 ttcctacagt gcccttggtt aaattaggca gttcttttac gaaggttcaa gattatctaa
     1621 gaagatttga aagtatacca gatatgcttg aattggatca cctcacagtt tcaggagatg
     1681 tgacatttgg aaaaaatgtt tcattaaagg gaacggttat catcattgca aatcatggtg
     1741 acagaattga tatcccacct ggagcagtat tagagaacaa gattgtgtct ggaaaccttc
     1801 gcatcttgga ccactgaaat gaaaaatact gtggacactt aaataatggg ctagtttctt
     1861 acaatgaaat gttctctagg attctaaaat aggcaggtac tttactatgt tactgtaccc
     1921 tgcagtgttg atttttaaaa tagagttttc tgcagtatgc ttttagtcta agaaaagcac
     1981 agatggagca atactttcct tctttgaaga gaatcccaaa agttagttca tcttaaagtg
     2041 caatattgtt taatcttaaa actgggcaac tttggaagaa cttttaacag aagcctcaat
     2101 gatgatcact ttgaattgct tgtgatttca aaaataaagc agtgaagcaa
//
