LOCUS       NM_001324116            3559 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens UDP-N-acetylglucosamine pyrophosphorylase 1 (UAP1),
            transcript variant 5, mRNA.
ACCESSION   NM_001324116 XM_005245462
VERSION     NM_001324116.5
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 3559)
  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 3559)
  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 3559)
  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 3559)
  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 3559)
  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 3559)
  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 3559)
  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 3559)
  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 3559)
  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 3559)
  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 Jun 15, 2021 this sequence version replaced NM_001324116.4.
            
            Sequence Note:.
            
            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 :: SRR1803614.6555.1,
                                           SRR1803616.38528.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367925.6/ ENSP00000356902.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-56                AL596325.5         30156-30211
            57-393              AL596325.5         34446-34782
            394-598             AL596325.5         45211-45415
            599-774             AL596325.5         47862-48037
            775-947             AL596325.5         49721-49893
            948-1141            AL596325.5         55909-56102
            1142-1282           AL596325.5         57127-57267
            1283-1471           AL596325.5         58757-58945
            1472-1522           AL596325.5         61166-61216
            1523-1589           AL596325.5         66226-66292
            1590-3559           AL596325.5         67705-69674
FEATURES             Location/Qualifiers
     source          1..3559
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     gene            1..3559
                     /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..56
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     exon            57..393
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     CDS             114..1682
                     /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 5; 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_001311045.1"
                     /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            394..598
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     exon            599..774
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     exon            775..947
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     exon            948..1141
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1142..1282
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1283..1471
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1472..1522
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1523..1589
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1590..3559
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2131..2136
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /note="hexamer: AATAAA"
     polyA_site      2156
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /note="major polyA site"
     regulatory      2686..2691
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /note="hexamer: AATAAA"
     polyA_site      2713
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
     regulatory      2887..2892
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /note="hexamer: AATAAA"
     polyA_site      2908
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
     regulatory      3527..3532
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /note="hexamer: AATAAA"
     polyA_site      3559
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
ORIGIN      
        1 gagtggccgc gcggaaggag ctggagacgg tcgtagctgc ggtcgcgccg agaaaggttt
       61 acaggtacat acattacacc cctatttcta caaagcttgg ctattagagc attatgaaca
      121 ttaatgacct caaactcacg ttgtccaaag ctgggcaaga gcacctacta cgtttctgga
      181 atgagcttga agaagcccaa caggtagaac tttatgcaga gctccaggcc atgaactttg
      241 aggagctgaa cttctttttc caaaaggcca ttgaaggttt taaccagtct tctcaccaaa
      301 agaatgtgga tgcacgaatg gaacctgtgc ctcgagaggt attaggcagt gctacaaggg
      361 atcaagatca gctccaggcc tgggaaagtg aaggactttt ccagatttct cagaataaag
      421 tagcagttct tcttctagct ggtgggcagg ggacaagact cggcgttgca tatcctaagg
      481 ggatgtatga tgttggtttg ccatcccgta agacactttt tcagattcaa gcagagcgta
      541 tcctgaagct acagcaggtt gctgaaaaat attatggcaa caaatgcatt attccatggt
      601 atataatgac cagtggcaga acaatggaat ctacaaagga gttcttcacc aagcacaagt
      661 actttggttt aaaaaaagag aatgtaatct tttttcagca aggaatgctc cccgccatga
      721 gttttgatgg gaaaattatt ttggaagaga agaacaaagt ttctatggct ccagatggga
      781 atggtggtct ttatcgggca cttgcagccc agaatattgt ggaggatatg gagcaaagag
      841 gcatttggag cattcatgtc tattgtgttg acaacatatt agtaaaagtg gcagacccac
      901 ggttcattgg attttgcatt cagaaaggag cagactgtgg agcaaaggtg gtagagaaaa
      961 cgaaccctac agaaccagtt ggagtggttt gccgagtgga tggagtttac caggtggtag
     1021 aatatagtga gatttccctg gcaacagctc aaaaacgaag ctcagacgga cgactgctgt
     1081 tcaatgcggg gaacattgcc aaccatttct tcactgtacc atttctgaga gatgttgtca
     1141 atgtttatga acctcagttg cagcaccatg tggctcaaaa gaagattcct tatgtggata
     1201 cccaaggaca gttaattaag ccagacaaac ccaatggaat aaagatggaa aaatttgtct
     1261 ttgacatctt ccagtttgca aagaagtttg tggtatatga agtattgcga gaagatgagt
     1321 tttccccact aaagaatgct gatagtcaga atgggaaaga caaccctact actgcaaggc
     1381 atgctttgat gtcccttcat cattgctggg tcctcaatgc agggggccat ttcatagatg
     1441 aaaatggctc tcgccttcca gcaattcccc gcagtgctac aaatgggaag tcagagacca
     1501 tcacagctga tgtcaatcac aacttgaagg atgccaatga tgtaccaatc caatgtgaaa
     1561 tctctcctct tatctcctat gctggagaag gattagaaag ttatgtggca gataaagaat
     1621 tccatgcacc tctaatcatc gatgagaatg gagttcatga gctggtgaaa aatggtattt
     1681 gaaccagata ccaagttttg tttgccacga taggaatagc ttttattttt gatagaccaa
     1741 ctgtgaacct acaagacgtc ttggacaact gaagtttaaa tatccacagg gttttatttt
     1801 gcttgttgaa ctcttagagc tattgcaaac ttcccaagat ccagatgact gaatttcaga
     1861 tagcattttt atgattccca actcattgaa ggtcttattt atataatttt ttccaagcca
     1921 aggagaccat tggccatcca ggaaatttcg tacagctgaa atataggcag gatgttcaac
     1981 atcagtttac ttgcagctgg aagcatttgt ttttgaagtt gtacatagta ataatatgtc
     2041 attgtacatg ttgaaaggtt tctatggtac taaaagtttg ttttatttta tcaaacatta
     2101 agctttttta agaaaataat tgggcagtga aataaatgta tcttcttgtc tctggagtgt
     2161 catttgtact tgaagaaatt atttcattga gaaaatatga aacttgggag aaactttaag
     2221 ataatgcata aaaacaaatt gatgcttcag tgaggttgca gagtcataga acttctttca
     2281 gtgaatatct aactttgggc tttatcttct tatcacttta taatagtagc tctcacccaa
     2341 agattatttt gtcctccacc caaaggggca tttggcaatg tctggagata tttttggttg
     2401 tgacaagtgg gaaagtgaag tggtaccact ggcatctaat agggattagg gatgtcacta
     2461 aacatcctac aatgcacagg atggtctcct acgacaaaga gttatctggc ctaaagtgtc
     2521 aatggtgtca aggtcgagaa gccttgtttc aaattattca tttactctgt tttgcccaaa
     2581 tatttggtgg cacttaggaa ttcaaaagaa tgtagtttct gaattttctc tggtaggcta
     2641 ttccagtttt ttgttattgt tgttgttatt ttagaggatt aaaaaaataa aaagacaaag
     2701 gtggttcttt aaatatgggc catagatcat tggtcattag taagggttct ctgtgtctaa
     2761 aatgctgttt gcatgaaaag actgagcttt ataaatgcat cttaaataat atttaagtat
     2821 tgaccaaaag tataaaaagg aacatctgga taaatgattc taaaaattat atctagaaaa
     2881 gagatgaata aatttcattt tccgctaaca agttgtcaca agataggatg tcattcatgg
     2941 ggtgggtctt ttgtttaagg atcacttttt tttttttttg aagagcatgt gatgttcata
     3001 tccatcaatc ttacctattt tttttttaac taaggcctaa atcattcatt tagcatattt
     3061 tctattttat ttcaataaca gctcaatttt gctattgtta tctattccag ttttcaaaaa
     3121 gattagtgaa gtttgacttc tcattgaaat gagctccaaa tgggttgtaa gaatggaatt
     3181 gcagagtctt tagctcctga atgccaaaaa ctgatactaa tggtatgatc cgtttctttt
     3241 tttcttgaac cttgctattt cctctgctat ttccacctgc tatttattct tctcctgttg
     3301 taagaaaata ctagtgatgc taggaaaagg gaagaatgga aatgggattg tgtagtggtt
     3361 ttgttggaga ggagcgatgg ctggggaaca ttgggtagtt aagagcaaac tctgagagcc
     3421 tctgagccat gaaatgataa ggtgatagca ttatgtattt ttatgagttc ttgttaaata
     3481 attgttataa ttcagaaaat acagaattgg gtaaaatgtt tatgaaaata aaagctagaa
     3541 taatttggca gtaacagta
//
