LOCUS       NP_001311045             522 aa            linear   PRI 22-SEP-2024
DEFINITION  UDP-N-acetylhexosamine pyrophosphorylase isoform b [Homo sapiens].
ACCESSION   NP_001311045 XP_005245519
VERSION     NP_001311045.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 522)
  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  (residues 1 to 522)
  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  (residues 1 to 522)
  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  (residues 1 to 522)
  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  (residues 1 to 522)
  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  (residues 1 to 522)
  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  (residues 1 to 522)
  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  (residues 1 to 522)
  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  (residues 1 to 522)
  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 (residues 1 to 522)
  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 Apr 27, 2016 this sequence version replaced XP_005245519.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..522
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     Protein         1..522
                     /product="UDP-N-acetylhexosamine pyrophosphorylase isoform
                     b"
                     /EC_number="2.7.7.23"
                     /EC_number="2.7.7.83"
                     /note="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"
                     /calculated_mol_wt=58638
     Region          88..410
                     /region_name="UDPGlcNAc_PPase"
                     /note="UDPGlcNAc pyrophosphorylase catalayzes the
                     synthesis of UDPGlcNAc; cd04193"
                     /db_xref="CDD:133036"
     Site            order(108,110..111,165,196,220,222..223,251..252,289..290,
                     303..304,327,383,407)
                     /site_type="active"
                     /note="substrate binding site [active]"
                     /db_xref="CDD:133036"
     Site            order(115,285,303..305,373,398)
                     /site_type="active"
                     /note="dimerization interface [active]"
                     /db_xref="CDD:133036"
     CDS             1..522
                     /gene="UAP1"
                     /gene_synonym="AGX; AGX1; AGX2; SPAG2"
                     /coded_by="NM_001324116.5:114..1682"
                     /note="isoform b is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS81393.1"
                     /db_xref="GeneID:6675"
                     /db_xref="HGNC:HGNC:12457"
                     /db_xref="MIM:602862"
ORIGIN      
        1 mnindlkltl skagqehllr fwneleeaqq velyaelqam nfeelnfffq kaiegfnqss
       61 hqknvdarme pvprevlgsa trdqdqlqaw eseglfqisq nkvavlllag gqgtrlgvay
      121 pkgmydvglp srktlfqiqa erilklqqva ekyygnkcii pwyimtsgrt mestkefftk
      181 hkyfglkken viffqqgmlp amsfdgkiil eeknkvsmap dgngglyral aaqnivedme
      241 qrgiwsihvy cvdnilvkva dprfigfciq kgadcgakvv ektnptepvg vvcrvdgvyq
      301 vveyseisla taqkrssdgr llfnagnian hfftvpflrd vvnvyepqlq hhvaqkkipy
      361 vdtqgqlikp dkpngikmek fvfdifqfak kfvvyevlre defsplknad sqngkdnptt
      421 arhalmslhh cwvlnagghf idengsrlpa iprsatngks etitadvnhn lkdandvpiq
      481 ceisplisya geglesyvad kefhapliid engvhelvkn gi
//
