LOCUS       NM_001388401            2459 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens UDP-N-acetylglucosamine pyrophosphorylase 1 (UAP1),
            transcript variant 7, mRNA.
ACCESSION   NM_001388401 XM_011509913
VERSION     NM_001388401.1
KEYWORDS    RefSeq.
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 2459)
  AUTHORS   Yang,S., Jin,S., Xian,H., Zhao,Z., Wang,L., Wu,Y., Zhou,L., Li,M.
            and Cui,J.
  TITLE     Metabolic enzyme UAP1 mediates IRF3 pyrophosphorylation to
            facilitate innate immune response
  JOURNAL   Mol Cell 83 (2), 298-313 (2023)
   PUBMED   36603579
REFERENCE   2  (bases 1 to 2459)
  AUTHORS   Chen,X., Raimi,O.G., Ferenbach,A.T. and van Aalten,D.M.F.
  TITLE     A missense mutation in a patient with developmental delay affects
            the activity and structure of the hexosamine biosynthetic pathway
            enzyme AGX1
  JOURNAL   FEBS Lett 595 (1), 110-122 (2021)
   PUBMED   33098688
  REMARK    GeneRIF: A missense mutation in a patient with developmental delay
            affects the activity and structure of the hexosamine biosynthetic
            pathway enzyme AGX1.
REFERENCE   3  (bases 1 to 2459)
  AUTHORS   Puttamallesh,V.N., Deb,B., Gondkar,K., Jain,A., Nair,B., Pandey,A.,
            Chatterjee,A., Gowda,H. and Kumar,P.
  TITLE     Quantitative Proteomics of Urinary Bladder Cancer Cell Lines
            Identify UAP1 as a Potential Therapeutic Target
  JOURNAL   Genes (Basel) 11 (7), 763 (2020)
   PUBMED   32650368
  REMARK    GeneRIF: Quantitative Proteomics of Urinary Bladder Cancer Cell
            Lines Identify UAP1 as a Potential Therapeutic Target.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2459)
  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 2459)
  AUTHORS   Itkonen,H.M., Engedal,N., Babaie,E., Luhr,M., Guldvik,I.J.,
            Minner,S., Hohloch,J., Tsourlakis,M.C., Schlomm,T. and Mills,I.G.
  TITLE     UAP1 is overexpressed in prostate cancer and is protective against
            inhibitors of N-linked glycosylation
  JOURNAL   Oncogene 34 (28), 3744-3750 (2015)
   PUBMED   25241896
  REMARK    GeneRIF: Results identified an enzyme, UAP1, which is highly
            overexpressed in prostate cancer and protects cancer cells from
            endoplasmic reticulum stress conferring a growth advantage.
REFERENCE   6  (bases 1 to 2459)
  AUTHORS   Peneff,C., Ferrari,P., Charrier,V., Taburet,Y., Monnier,C.,
            Zamboni,V., Winter,J., Harnois,M., Fassy,F. and Bourne,Y.
  TITLE     Crystal structures of two human pyrophosphorylase isoforms in
            complexes with UDPGlc(Gal)NAc: role of the alternatively spliced
            insert in the enzyme oligomeric assembly and active site
            architecture
  JOURNAL   EMBO J 20 (22), 6191-6202 (2001)
   PUBMED   11707391
REFERENCE   7  (bases 1 to 2459)
  AUTHORS   Wang-Gillam,A., Pastuszak,I. and Elbein,A.D.
  TITLE     A 17-amino acid insert changes UDP-N-acetylhexosamine
            pyrophosphorylase specificity from UDP-GalNAc to UDP-GlcNAc
  JOURNAL   J Biol Chem 273 (42), 27055-27057 (1998)
   PUBMED   9765219
REFERENCE   8  (bases 1 to 2459)
  AUTHORS   Diekman,A.B., Olson,G. and Goldberg,E.
  TITLE     Expression of the human antigen SPAG2 in the testis and
            localization to the outer dense fibers in spermatozoa
  JOURNAL   Mol Reprod Dev 50 (3), 284-293 (1998)
   PUBMED   9621304
REFERENCE   9  (bases 1 to 2459)
  AUTHORS   Mio,T., Yabe,T., Arisawa,M. and Yamada-Okabe,H.
  TITLE     The eukaryotic UDP-N-acetylglucosamine pyrophosphorylases. Gene
            cloning, protein expression, and catalytic mechanism
  JOURNAL   J Biol Chem 273 (23), 14392-14397 (1998)
   PUBMED   9603950
REFERENCE   10 (bases 1 to 2459)
  AUTHORS   Diekman,A.B. and Goldberg,E.
  TITLE     Characterization of a human antigen with sera from infertile
            patients
  JOURNAL   Biol Reprod 50 (5), 1087-1093 (1994)
   PUBMED   8025165
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL596325.5.
            
            On Oct 29, 2020 this sequence version replaced XM_011509913.2.
            
            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##
            CDS exon combination :: SRR1660807.244383.1, SRR1803612.192060.1
                                    [ECO:0000331]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-247               AL596325.5         29965-30211
            248-359             AL596325.5         30907-31018
            360-696             AL596325.5         34446-34782
            697-901             AL596325.5         45211-45415
            902-1077            AL596325.5         47862-48037
            1078-1250           AL596325.5         49721-49893
            1251-1444           AL596325.5         55909-56102
            1445-1585           AL596325.5         57127-57267
            1586-1774           AL596325.5         58757-58945
            1775-1825           AL596325.5         61166-61216
            1826-1892           AL596325.5         66226-66292
            1893-2459           AL596325.5         67705-68271
FEATURES             Location/Qualifiers
     source          1..2459
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     gene            1..2459
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /note="UDP-N-acetylglucosamine pyrophosphorylase 1"
                     /db_xref="GeneID:6675"
                     /db_xref="HGNC:HGNC:12457"
                     /db_xref="MIM:602862"
     exon            1..247
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     exon            248..359
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     exon            360..696
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     CDS             417..1985
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /EC_number="2.7.7.23"
                     /EC_number="2.7.7.83"
                     /note="isoform b is encoded by transcript variant 7; sperm
                     associated antigen 2; antigen X; testis tissue
                     sperm-binding protein Li 37a; protein-pyrophosphorylation
                     enzyme; UDP-N-acetylglucosamine diphosphorylase 1;
                     UDP-N-acetylhexosamine pyrophosphorylase 1;
                     UDP-N-acetylgalactosamine pyrophosphorylase"
                     /codon_start=1
                     /product="UDP-N-acetylhexosamine pyrophosphorylase isoform
                     b"
                     /protein_id="NP_001375330.1"
                     /db_xref="CCDS:CCDS81393.1"
                     /db_xref="GeneID:6675"
                     /db_xref="HGNC:HGNC:12457"
                     /db_xref="MIM:602862"
                     /translation="MNINDLKLTLSKAGQEHLLRFWNELEEAQQVELYAELQAMNFEE
                     LNFFFQKAIEGFNQSSHQKNVDARMEPVPREVLGSATRDQDQLQAWESEGLFQISQNK
                     VAVLLLAGGQGTRLGVAYPKGMYDVGLPSRKTLFQIQAERILKLQQVAEKYYGNKCII
                     PWYIMTSGRTMESTKEFFTKHKYFGLKKENVIFFQQGMLPAMSFDGKIILEEKNKVSM
                     APDGNGGLYRALAAQNIVEDMEQRGIWSIHVYCVDNILVKVADPRFIGFCIQKGADCG
                     AKVVEKTNPTEPVGVVCRVDGVYQVVEYSEISLATAQKRSSDGRLLFNAGNIANHFFT
                     VPFLRDVVNVYEPQLQHHVAQKKIPYVDTQGQLIKPDKPNGIKMEKFVFDIFQFAKKF
                     VVYEVLREDEFSPLKNADSQNGKDNPTTARHALMSLHHCWVLNAGGHFIDENGSRLPA
                     IPRSATNGKSETITADVNHNLKDANDVPIQCEISPLISYAGEGLESYVADKEFHAPLI
                     IDENGVHELVKNGI"
     exon            697..901
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     exon            902..1077
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1078..1250
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1251..1444
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1445..1585
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1586..1774
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1775..1825
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1826..1892
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1893..2459
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2434..2439
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /note="hexamer: AATAAA"
     polyA_site      2459
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /note="major polyA site"
ORIGIN      
        1 gtctgtgctc ccggcgctga cgtgtctggg cggtcggctt ccactccttc aggcgtcggc
       61 agccactagt cgtggcgaga ggggcggggt ggccggggct ggcgctccac ttggcccccg
      121 ctcccggccc gccccgccgc cgcggccccc cggatgaggg tatatattcg gagcgagcgc
      181 gggacgccga tgagtggccg cgcggaagga gctggagacg gtcgtagctg cggtcgcgcc
      241 gagaaagaag gatggtattg gagggctgag cacacgtatg ctgaacatat ggctgcttga
      301 actttggcct gtcgctgtgc tacacttact tctacatggt ttatgaaatc tgaaatcagg
      361 tttacaggta catacattac acccctattt ctacaaagct tggctattag agcattatga
      421 acattaatga cctcaaactc acgttgtcca aagctgggca agagcaccta ctacgtttct
      481 ggaatgagct tgaagaagcc caacaggtag aactttatgc agagctccag gccatgaact
      541 ttgaggagct gaacttcttt ttccaaaagg ccattgaagg ttttaaccag tcttctcacc
      601 aaaagaatgt ggatgcacga atggaacctg tgcctcgaga ggtattaggc agtgctacaa
      661 gggatcaaga tcagctccag gcctgggaaa gtgaaggact tttccagatt tctcagaata
      721 aagtagcagt tcttcttcta gctggtgggc aggggacaag actcggcgtt gcatatccta
      781 aggggatgta tgatgttggt ttgccatccc gtaagacact ttttcagatt caagcagagc
      841 gtatcctgaa gctacagcag gttgctgaaa aatattatgg caacaaatgc attattccat
      901 ggtatataat gaccagtggc agaacaatgg aatctacaaa ggagttcttc accaagcaca
      961 agtactttgg tttaaaaaaa gagaatgtaa tcttttttca gcaaggaatg ctccccgcca
     1021 tgagttttga tgggaaaatt attttggaag agaagaacaa agtttctatg gctccagatg
     1081 ggaatggtgg tctttatcgg gcacttgcag cccagaatat tgtggaggat atggagcaaa
     1141 gaggcatttg gagcattcat gtctattgtg ttgacaacat attagtaaaa gtggcagacc
     1201 cacggttcat tggattttgc attcagaaag gagcagactg tggagcaaag gtggtagaga
     1261 aaacgaaccc tacagaacca gttggagtgg tttgccgagt ggatggagtt taccaggtgg
     1321 tagaatatag tgagatttcc ctggcaacag ctcaaaaacg aagctcagac ggacgactgc
     1381 tgttcaatgc ggggaacatt gccaaccatt tcttcactgt accatttctg agagatgttg
     1441 tcaatgttta tgaacctcag ttgcagcacc atgtggctca aaagaagatt ccttatgtgg
     1501 atacccaagg acagttaatt aagccagaca aacccaatgg aataaagatg gaaaaatttg
     1561 tctttgacat cttccagttt gcaaagaagt ttgtggtata tgaagtattg cgagaagatg
     1621 agttttcccc actaaagaat gctgatagtc agaatgggaa agacaaccct actactgcaa
     1681 ggcatgcttt gatgtccctt catcattgct gggtcctcaa tgcagggggc catttcatag
     1741 atgaaaatgg ctctcgcctt ccagcaattc cccgcagtgc tacaaatggg aagtcagaga
     1801 ccatcacagc tgatgtcaat cacaacttga aggatgccaa tgatgtacca atccaatgtg
     1861 aaatctctcc tcttatctcc tatgctggag aaggattaga aagttatgtg gcagataaag
     1921 aattccatgc acctctaatc atcgatgaga atggagttca tgagctggtg aaaaatggta
     1981 tttgaaccag ataccaagtt ttgtttgcca cgataggaat agcttttatt tttgatagac
     2041 caactgtgaa cctacaagac gtcttggaca actgaagttt aaatatccac agggttttat
     2101 tttgcttgtt gaactcttag agctattgca aacttcccaa gatccagatg actgaatttc
     2161 agatagcatt tttatgattc ccaactcatt gaaggtctta tttatataat tttttccaag
     2221 ccaaggagac cattggccat ccaggaaatt tcgtacagct gaaatatagg caggatgttc
     2281 aacatcagtt tacttgcagc tggaagcatt tgtttttgaa gttgtacata gtaataatat
     2341 gtcattgtac atgttgaaag gtttctatgg tactaaaagt ttgttttatt ttatcaaaca
     2401 ttaagctttt ttaagaaaat aattgggcag tgaaataaat gtatcttctt gtctctgga
//
