LOCUS       NP_775491                317 aa            linear   PRI 21-SEP-2024
DEFINITION  uridine phosphorylase 2 isoform a [Homo sapiens].
ACCESSION   NP_775491
VERSION     NP_775491.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 317)
  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  (residues 1 to 317)
  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  (residues 1 to 317)
  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  (residues 1 to 317)
  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  (residues 1 to 317)
  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  (residues 1 to 317)
  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  (residues 1 to 317)
  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  (residues 1 to 317)
  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  (residues 1 to 317)
  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 (residues 1 to 317)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..317
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.1"
     Protein         1..317
                     /product="uridine phosphorylase 2 isoform a"
                     /EC_number="2.4.2.3"
                     /note="liver-specific uridine phosphorylase; UPase 2;
                     urdPase 2"
                     /calculated_mol_wt=35396
     Region          37..311
                     /region_name="UP_hUPP-like"
                     /note="uridine phosphorylases similar to a human UPP1 and
                     UPP2; cd17763"
                     /db_xref="CDD:350163"
     Site            order(41..42,66,100..101,116,119..120,122..123,126..127,
                     129..130,167..168,175..179,184,217..222,224,226..233,235,
                     237,241,255,263,266..267)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:350163"
     Site            order(65..67,70,100,116,144..149,219,223,225,253..256,279,
                     287)
                     /site_type="active"
                     /db_xref="CDD:350163"
     Site            order(65..67,70,100,144..147)
                     /site_type="other"
                     /note="phosphate binding site [ion binding]"
                     /db_xref="CDD:350163"
     CDS             1..317
                     /gene="UPP2"
                     /gene_synonym="UDRPASE2; UP2; UPASE2"
                     /coded_by="NM_173355.4:189..1142"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS2207.1"
                     /db_xref="GeneID:151531"
                     /db_xref="HGNC:HGNC:23061"
                     /db_xref="MIM:617340"
ORIGIN      
        1 masvipasnr smrsdrntyv gkrfvhvknp yldlmdedil yhldlgtkth nlpamfgdvk
       61 fvcvggspnr mkafalfmhk elgfeeaeed ikdicagtdr ycmyktgpvl aishgmgips
      121 isimlhelik llhharccdv tiirigtsgg igiapgtvvi tdiavdsffk prfeqvildn
      181 ivtrsteldk elseelfncs keipnfptlv ghtmctydfy egqgrldgal csfsrekkld
      241 ylkrafkagv rniemestvf aamcglcglk aavvcvtlld rldcdqinlp hdvlveyqqr
      301 pqllisnfir rrlglcd
//
