LOCUS       NM_017220               1177 bp    mRNA    linear   ROD 19-FEB-2025
DEFINITION  Rattus norvegicus 6-pyruvoyl-tetrahydropterin synthase (Pts),
            transcript variant 1, mRNA.
ACCESSION   NM_017220
VERSION     NM_017220.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 1177)
  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   2  (bases 1 to 1177)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   3  (bases 1 to 1177)
  AUTHORS   Wei,X., Das,J., Fragoza,R., Liang,J., Bastos de Oliveira,F.M.,
            Lee,H.R., Wang,X., Mort,M., Stenson,P.D., Cooper,D.N., Lipkin,S.M.,
            Smolka,M.B. and Yu,H.
  TITLE     A massively parallel pipeline to clone DNA variants and examine
            molecular phenotypes of human disease mutations
  JOURNAL   PLoS Genet 10 (12), e1004819 (2014)
   PUBMED   25502805
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1177)
  AUTHORS   Das,J., Lee,H.R., Sagar,A., Fragoza,R., Liang,J., Wei,X., Wang,X.,
            Mort,M., Stenson,P.D., Cooper,D.N. and Yu,H.
  TITLE     Elucidating common structural features of human pathogenic
            variations using large-scale atomic-resolution protein networks
  JOURNAL   Hum Mutat 35 (5), 585-593 (2014)
   PUBMED   24599843
REFERENCE   5  (bases 1 to 1177)
  AUTHORS   Yu,H., Tardivo,L., Tam,S., Weiner,E., Gebreab,F., Fan,C.,
            Svrzikapa,N., Hirozane-Kishikawa,T., Rietman,E., Yang,X.,
            Sahalie,J., Salehi-Ashtiani,K., Hao,T., Cusick,M.E., Hill,D.E.,
            Roth,F.P., Braun,P. and Vidal,M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   6  (bases 1 to 1177)
  AUTHORS   Ploom,T., Thony,B., Yim,J., Lee,S., Nar,H., Leimbacher,W.,
            Richardson,J., Huber,R. and Auerbach,G.
  TITLE     Crystallographic and kinetic investigations on the mechanism of
            6-pyruvoyl tetrahydropterin synthase
  JOURNAL   J Mol Biol 286 (3), 851-860 (1999)
   PUBMED   10024455
REFERENCE   7  (bases 1 to 1177)
  AUTHORS   Turri,M.O., Ilg,E.C., Thony,B. and Blau,N.
  TITLE     Structure, genomic localization and recombinant expression of the
            mouse 6-pyruvoyl-tetrahydropterin synthase gene
  JOURNAL   Biol Chem 379 (12), 1441-1447 (1998)
   PUBMED   9894812
REFERENCE   8  (bases 1 to 1177)
  AUTHORS   Thony,B., Leimbacher,W., Blau,N., Harvie,A. and Heizmann,C.W.
  TITLE     Hyperphenylalaninemia due to defects in tetrahydrobiopterin
            metabolism: molecular characterization of mutations in
            6-pyruvoyl-tetrahydropterin synthase
  JOURNAL   Am J Hum Genet 54 (5), 782-792 (1994)
   PUBMED   8178819
REFERENCE   9  (bases 1 to 1177)
  AUTHORS   Nar,H., Huber,R., Heizmann,C.W., Thony,B. and Burgisser,D.
  TITLE     Three-dimensional structure of 6-pyruvoyl tetrahydropterin
            synthase, an enzyme involved in tetrahydrobiopterin biosynthesis
  JOURNAL   EMBO J 13 (6), 1255-1262 (1994)
   PUBMED   8137809
REFERENCE   10 (bases 1 to 1177)
  AUTHORS   Inoue,Y., Kawasaki,Y., Harada,T., Hatakeyama,K. and Kagamiyama,H.
  TITLE     Purification and cDNA cloning of rat 6-pyruvoyl-tetrahydropterin
            synthase
  JOURNAL   J Biol Chem 266 (31), 20791-20796 (1991)
   PUBMED   1939130
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            JAXUCZ010000008.1.
            
            On Nov 26, 2020 this sequence version replaced NM_017220.1.
            
            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 :: M77850.1, BC059140.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN12840107,
                                           SAMN16676785 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-130               JAXUCZ010000008.1  59774136-59774265   c
            131-210             JAXUCZ010000008.1  59772395-59772474   c
            211-233             JAXUCZ010000008.1  59771102-59771124   c
            234-290             JAXUCZ010000008.1  59770571-59770627   c
            291-361             JAXUCZ010000008.1  59768257-59768327   c
            362-1177            JAXUCZ010000008.1  59767255-59768070   c
FEATURES             Location/Qualifiers
     source          1..1177
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="BN"
                     /db_xref="taxon:10116"
                     /chromosome="8"
                     /map="8q23"
     gene            1..1177
                     /gene="Pts"
                     /note="6-pyruvoyl-tetrahydropterin synthase"
                     /db_xref="GeneID:29498"
                     /db_xref="RGD:68367"
     exon            1..130
                     /gene="Pts"
                     /inference="alignment:Splign:2.1.0"
     CDS             51..485
                     /gene="Pts"
                     /EC_number="4.2.3.12"
                     /note="isoform 1 is encoded by transcript variant 1;
                     6-pyruvoyl tetrahydrobiopterin synthase; PTPS; PTP
                     synthase; 6-pyruvoyltetrahydropterin synthase"
                     /codon_start=1
                     /product="6-pyruvoyl tetrahydrobiopterin synthase isoform
                     1"
                     /protein_id="NP_058916.1"
                     /db_xref="GeneID:29498"
                     /db_xref="RGD:68367"
                     /translation="MNAAVGLRRRARLSRLVSFSASHRLHSPSLSAEENLKVFGKCNN
                     PNGHGHNYKVVVTIHGEIDPVTGMVMNLTDLKEYMEEAIMKPLDHKNLDLDVPYFADV
                     VSTTENVAVYIWENLQRLLPVGALYKVKVYETDNNIVVYKGE"
     exon            131..210
                     /gene="Pts"
                     /inference="alignment:Splign:2.1.0"
     exon            211..233
                     /gene="Pts"
                     /inference="alignment:Splign:2.1.0"
     exon            234..290
                     /gene="Pts"
                     /inference="alignment:Splign:2.1.0"
     exon            291..361
                     /gene="Pts"
                     /inference="alignment:Splign:2.1.0"
     exon            362..1177
                     /gene="Pts"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 cggtcccgga agccggaacc cgtagcttgt gggtctttgg tctgaagacc atgaacgcgg
       61 cggttggcct tcggcgccgc gcgcgattgt cgcgcctcgt gtccttcagc gcgagccacc
      121 ggctgcacag cccatctctg agtgctgagg agaacttgaa agtgtttggg aaatgcaaca
      181 atccgaatgg ccatgggcac aactataaag ttgtggtgac aattcatgga gagatcgatc
      241 cggttacagg aatggttatg aatttgactg acctcaaaga atacatggag gaggccatta
      301 tgaagcccct tgatcacaag aacctggatc tggatgtgcc atactttgca gatgttgtaa
      361 gcacgacaga aaatgtagct gtctatatct gggagaacct gcagagactt cttccagtgg
      421 gagctctcta taaagtaaaa gtgtatgaaa ctgacaacaa cattgtggtc tacaaaggag
      481 aatagatctt aggtttaata ttgtagaaaa gctaatttct tttcttacta gaaaaagctc
      541 tttgtccttt taaagtacac agcagtcatc acctacccgt gtctccatgt tgtgttctgg
      601 tgtgcctgag cgttaaaggg attgtgaggt ctgtatgtaa atgcattaag aagcaaattc
      661 gcagtgcatc ctgagtgtat tcttggtgag aaagcagggg agaactgagg attgaagccc
      721 gggcctcaca catgtgaaac atatactctg ctccgacatg catcccagtc cgccaaggcc
      781 gtttagagga tctttaccta gagatagaga ttgttttatc ttcagctgga gagacagctc
      841 agtggttagg agcactgact gcttctccag aggtcctgag ttcaaatccc actagacggt
      901 ggtggctcac aaccgtctgt aatgggatcc gatgctctct tctggtgtgt aggtgtacat
      961 acagacaaag cattcctaca tttaagaaaa tacataaata agtttcaaaa attatttcat
     1021 ctggggctgg ggatttagct cagtggtaga gcgcttacct aggaagcgca aggtcctggg
     1081 ttcggtcccc agctccgaaa aaaagaacca aaaaaaaaaa aattatttca tctgagcaaa
     1141 atgttttgat gtggaattat gtaaaggtaa aataaac
//
