LOCUS       NM_173355               2406 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 1,
            mRNA.
ACCESSION   NM_173355
VERSION     NM_173355.4
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 2406)
  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   2  (bases 1 to 2406)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2406)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   4  (bases 1 to 2406)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   5  (bases 1 to 2406)
  AUTHORS   Roosild,T.P., Castronovo,S., Villoso,A., Ziemba,A. and Pizzorno,G.
  TITLE     A novel structural mechanism for redox regulation of uridine
            phosphorylase 2 activity
  JOURNAL   J Struct Biol 176 (2), 229-237 (2011)
   PUBMED   21855639
  REMARK    GeneRIF: A novel structural mechanism for redox regulation of
            uridine phosphorylase 2 activity
REFERENCE   6  (bases 1 to 2406)
  AUTHORS   Han,M.R., Schellenberg,G.D. and Wang,L.S.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     Genome-wide association reveals genetic effects on human Abeta42
            and tau protein levels in cerebrospinal fluids: a case control
            study
  JOURNAL   BMC Neurol 10, 90 (2010)
   PUBMED   20932310
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2406)
  AUTHORS   Maestrini,E., Pagnamenta,A.T., Lamb,J.A., Bacchelli,E., Sykes,N.H.,
            Sousa,I., Toma,C., Barnby,G., Butler,H., Winchester,L.,
            Scerri,T.S., Minopoli,F., Reichert,J., Cai,G., Buxbaum,J.D.,
            Korvatska,O., Schellenberg,G.D., Dawson,G., de Bildt,A.,
            Minderaa,R.B., Mulder,E.J., Morris,A.P., Bailey,A.J. and
            Monaco,A.P.
  CONSRTM   IMGSAC
  TITLE     High-density SNP association study and copy number variation
            analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4
            gene region in autism susceptibility
  JOURNAL   Mol Psychiatry 15 (9), 954-968 (2010)
   PUBMED   19401682
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2406)
  AUTHORS   Johansson,M.
  TITLE     Identification of a novel human uridine phosphorylase
  JOURNAL   Biochem Biophys Res Commun 307 (1), 41-46 (2003)
   PUBMED   12849978
  REMARK    GeneRIF: identification of the novel human uridine phosphorylase,
            UDPase 2, with broad substrate specificity; UPase-2 gene was mapped
            to chromosome 2q24.1 and the 2.2-kb mRNA was predominantly
            expressed in kidney
REFERENCE   9  (bases 1 to 2406)
  AUTHORS   Russell,R.L., Cao,D., Zhang,D., Handschumacher,R.E. and Pizzorno,G.
  TITLE     Uridine phosphorylase association with vimentin. Intracellular
            distribution and localization
  JOURNAL   J Biol Chem 276 (16), 13302-13307 (2001)
   PUBMED   11278417
REFERENCE   10 (bases 1 to 2406)
  AUTHORS   Watanabe,S. and Uchida,T.
  TITLE     Cloning and expression of human uridine phosphorylase
  JOURNAL   Biochem Biophys Res Commun 216 (1), 265-272 (1995)
   PUBMED   7488099
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC005539.1.
            
            On Nov 21, 2019 this sequence version replaced NM_173355.3.
            
            Transcript Variant: This variant (1) represents the longer
            transcript but encodes the shorter 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 :: AK122743.2, AY225131.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000005756.5/ ENSP00000005756.5
            RefSeq Select criteria :: based on expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-250               AC005539.1         44011-44260         c
            251-368             AC005539.1         39920-40037         c
            369-527             AC005539.1         30877-31035         c
            528-642             AC005539.1         28198-28312         c
            643-852             AC005539.1         24518-24727         c
            853-999             AC005539.1         22241-22387         c
            1000-2406           AC005539.1         9982-11388          c
FEATURES             Location/Qualifiers
     source          1..2406
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.1"
     gene            1..2406
                     /gene="UPP2"
                     /gene_synonym="UDRPASE2; UP2; UPASE2"
                     /note="uridine phosphorylase 2"
                     /db_xref="GeneID:151531"
                     /db_xref="HGNC:HGNC:23061"
                     /db_xref="MIM:617340"
     exon            1..250
                     /gene="UPP2"
                     /gene_synonym="UDRPASE2; UP2; UPASE2"
                     /inference="alignment:Splign:2.1.0"
     CDS             189..1142
                     /gene="UPP2"
                     /gene_synonym="UDRPASE2; UP2; UPASE2"
                     /EC_number="2.4.2.3"
                     /note="isoform a is encoded by transcript variant 1;
                     liver-specific uridine phosphorylase; UPase 2; urdPase 2"
                     /codon_start=1
                     /product="uridine phosphorylase 2 isoform a"
                     /protein_id="NP_775491.1"
                     /db_xref="CCDS:CCDS2207.1"
                     /db_xref="GeneID:151531"
                     /db_xref="HGNC:HGNC:23061"
                     /db_xref="MIM:617340"
                     /translation="MASVIPASNRSMRSDRNTYVGKRFVHVKNPYLDLMDEDILYHLD
                     LGTKTHNLPAMFGDVKFVCVGGSPNRMKAFALFMHKELGFEEAEEDIKDICAGTDRYC
                     MYKTGPVLAISHGMGIPSISIMLHELIKLLHHARCCDVTIIRIGTSGGIGIAPGTVVI
                     TDIAVDSFFKPRFEQVILDNIVTRSTELDKELSEELFNCSKEIPNFPTLVGHTMCTYD
                     FYEGQGRLDGALCSFSREKKLDYLKRAFKAGVRNIEMESTVFAAMCGLCGLKAAVVCV
                     TLLDRLDCDQINLPHDVLVEYQQRPQLLISNFIRRRLGLCD"
     exon            251..368
                     /gene="UPP2"
                     /gene_synonym="UDRPASE2; UP2; UPASE2"
                     /inference="alignment:Splign:2.1.0"
     exon            369..527
                     /gene="UPP2"
                     /gene_synonym="UDRPASE2; UP2; UPASE2"
                     /inference="alignment:Splign:2.1.0"
     exon            528..642
                     /gene="UPP2"
                     /gene_synonym="UDRPASE2; UP2; UPASE2"
                     /inference="alignment:Splign:2.1.0"
     exon            643..852
                     /gene="UPP2"
                     /gene_synonym="UDRPASE2; UP2; UPASE2"
                     /inference="alignment:Splign:2.1.0"
     exon            853..999
                     /gene="UPP2"
                     /gene_synonym="UDRPASE2; UP2; UPASE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..2406
                     /gene="UPP2"
                     /gene_synonym="UDRPASE2; UP2; UPASE2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2197..2202
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UPP2"
                     /gene_synonym="UDRPASE2; UP2; UPASE2"
                     /note="hexamer: AATAAA"
     polyA_site      2214
                     /gene="UPP2"
                     /gene_synonym="UDRPASE2; UP2; UPASE2"
                     /note="major polyA site"
     regulatory      2384..2389
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UPP2"
                     /gene_synonym="UDRPASE2; UP2; UPASE2"
                     /note="hexamer: AATAAA"
     polyA_site      2406
                     /gene="UPP2"
                     /gene_synonym="UDRPASE2; UP2; UPASE2"
ORIGIN      
        1 ataggaaaat ttaaaatgct aaaggaaaaa ttttcttagc aatttcacag gaaaacctaa
       61 gttttaagag aggttatcat tctgactggg aactgaacta ttatgactag gtctataatt
      121 taataacaag tcacaatatc tctctttctt gacatcaatt taaggtgact tttcacatag
      181 tagagagaat ggcttcagtt atacctgcct ccaataggtc catgagatct gacaggaata
      241 catatgttgg aaaaaggttt gttcacgtta aaaatcctta cttggatttg atggatgaag
      301 acattctcta tcacttggat ttgggaacaa aaacacacaa cctaccagca atgtttggag
      361 atgtaaagtt tgtctgtgtc ggtgggagcc ccaacagaat gaaagcattt gcactgttta
      421 tgcacaagga gctcgggttt gaggaagctg aagaagacat aaaagacatc tgtgctggga
      481 cagacagata ctgtatgtac aaaaccgggc ctgtgctcgc catcagtcac ggcatgggca
      541 tcccctccat ttctattatg cttcatgaac tcatcaaatt actccaccat gcacggtgct
      601 gcgatgtcac cattattaga atcggtacat cagggggaat agggattgca ccagggactg
      661 ttgtaataac ggatatagct gtagactcct tctttaagcc ccggtttgaa caggtcattt
      721 tggacaacat tgtcacccga agtactgaac tggacaaaga actgtctgaa gaactgttca
      781 actgtagcaa agaaatcccc aacttcccaa ccctcgttgg acatacaatg tgtacctatg
      841 atttttatga aggccaaggc cgactagatg gagcactgtg ctccttttcc agagaaaaaa
      901 agttagacta cttgaagaga gcatttaaag ctggtgtcag gaatattgaa atggaatcta
      961 cagtgtttgc agctatgtgt ggactctgtg gtctaaaagc tgctgtggtc tgtgtgacac
     1021 ttctcgacag actcgactgt gatcagatca acttgcctca tgatgtcctg gtggagtacc
     1081 agcaacggcc tcagctccta atctccaact tcatcagacg gcggcttgga ctttgtgact
     1141 agacgtccta actgggcagc ccaaccctcc cctgcaagtt tgtagctcaa gttgtaatgt
     1201 gaaagtcata ttttatttgt ggcattttta tatagttctc atccacatgc taaatggaaa
     1261 gactttatga aatccttctc tcttaaaaag gaatttattg taaaagaata ctcacactaa
     1321 attaaattca aatttcattt tagaataagt taactaaatc agtctaataa ttaaaatttt
     1381 aaaactcctg gattatgaca tttggagttt catatgcagc attaattaag ctcacatcaa
     1441 aatagaccag ccatttgcac atagttacca gtcactctgt ttctgaaacc aatccagaaa
     1501 ttcatgttag aacattgtca ggcacttcta ggtattggac aagtgacaga aactgatcat
     1561 ccatattcaa aatatttaca gaaaaaagtg tcagtgaaat gtaggtctat atggaaaagt
     1621 taccattagg aaaatatggc catactgctt ttttacccct gcactatttc agtgcaccac
     1681 agaataggat tcgagattta catatgcctg tttgtgattt tatctcagaa tataacaact
     1741 ctggattaca ttttcctctc aactgaaaac cctcagtaat gcaaagaaag gccttccttt
     1801 ttcttcagaa tcacaagtga ctaaattgcc ttctagccat tttttcttgt aaaaaaagtg
     1861 ttttgaggag gctgtatttt ttattccatt tcaatattaa ccaaataggc tgagaaattc
     1921 atagcaattg aattaagact tgagttcaag atgttaaagg aatccttttg tatgacttgt
     1981 ccagaccggc ctattgccct acccgtttga ttctctggga ggcatggtgc tcctcctggc
     2041 tgcacatgct ctctgtgaac tgatcgcatc ttgggttctt ctcaatttga catacttggg
     2101 agtcggaatg actggatggg ggatgggtag aggatgactg gcacacttgt atagtatgta
     2161 atgttgtgta catattattt atatggttgt ggctcaaata aagtttaatt ccaacacagt
     2221 acagattatt tggatcccag agccattgtc acacatgacc gaatggaggc ttggggcagg
     2281 aaataggtcc taggccggtt gagtctgaat tggcctgctc ctgggtgggg aatgtctttc
     2341 tctttcaagc aatgacaata aacaagaggt atttatcatc accaataaac aatcccccaa
     2401 gaggta
//
