LOCUS       NM_001409186            1160 bp    mRNA    linear   ROD 02-MAY-2024
DEFINITION  Mus musculus 6-pyruvoyl-tetrahydropterin synthase (Pts), transcript
            variant 9, mRNA.
ACCESSION   NM_001409186 XM_036154720
VERSION     NM_001409186.1
KEYWORDS    RefSeq.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1160)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1160)
  AUTHORS   Koscielny,G., Yaikhom,G., Iyer,V., Meehan,T.F., Morgan,H.,
            Atienza-Herrero,J., Blake,A., Chen,C.K., Easty,R., Di Fenza,A.,
            Fiegel,T., Grifiths,M., Horne,A., Karp,N.A., Kurbatova,N.,
            Mason,J.C., Matthews,P., Oakley,D.J., Qazi,A., Regnart,J.,
            Retha,A., Santos,L.A., Sneddon,D.J., Warren,J., Westerberg,H.,
            Wilson,R.J., Melvin,D.G., Smedley,D., Brown,S.D., Flicek,P.,
            Skarnes,W.C., Mallon,A.M. and Parkinson,H.
  TITLE     The International Mouse Phenotyping Consortium Web Portal, a
            unified point of access for knockout mice and related phenotyping
            data
  JOURNAL   Nucleic Acids Res 42 (Database issue), D802-D809 (2014)
   PUBMED   24194600
REFERENCE   3  (bases 1 to 1160)
  AUTHORS   Homma,D., Sumi-Ichinose,C., Tokuoka,H., Ikemoto,K., Nomura,T.,
            Kondo,K., Katoh,S. and Ichinose,H.
  TITLE     Partial biopterin deficiency disturbs postnatal development of the
            dopaminergic system in the brain
  JOURNAL   J Biol Chem 286 (2), 1445-1452 (2011)
   PUBMED   21062748
  REMARK    GeneRIF: biopterin contents in the brains of these knock-out mice
            were moderately decreased from postnatal day 0 (P0) and remained
            constant up to P21
REFERENCE   4  (bases 1 to 1160)
  AUTHORS   Sato,K., Sumi-Ichinose,C., Kaji,R., Ikemoto,K., Nomura,T.,
            Nagatsu,I., Ichinose,H., Ito,M., Sako,W., Nagahiro,S.,
            Graybiel,A.M. and Goto,S.
  TITLE     Differential involvement of striosome and matrix dopamine systems
            in a transgenic model of dopa-responsive dystonia
  JOURNAL   Proc Natl Acad Sci U S A 105 (34), 12551-12556 (2008)
   PUBMED   18713855
REFERENCE   5  (bases 1 to 1160)
  AUTHORS   Sumi-Ichinose,C., Urano,F., Shimomura,A., Sato,T., Ikemoto,K.,
            Shiraishi,H., Senda,T., Ichinose,H. and Nomura,T.
  TITLE     Genetically rescued tetrahydrobiopterin-depleted mice survive with
            hyperphenylalaninemia and region-specific monoaminergic
            abnormalities
  JOURNAL   J Neurochem 95 (3), 703-714 (2005)
   PUBMED   16135092
REFERENCE   6  (bases 1 to 1160)
  AUTHORS   Thony,B., Ding,Z. and Martinez,A.
  TITLE     Tetrahydrobiopterin protects phenylalanine hydroxylase activity in
            vivo: implications for tetrahydrobiopterin-responsive
            hyperphenylalaninemia
  JOURNAL   FEBS Lett 577 (3), 507-511 (2004)
   PUBMED   15556637
REFERENCE   7  (bases 1 to 1160)
  AUTHORS   Elzaouk,L., Leimbacher,W., Turri,M., Ledermann,B., Burki,K.,
            Blau,N. and Thony,B.
  TITLE     Dwarfism and low insulin-like growth factor-1 due to dopamine
            depletion in Pts-/- mice rescued by feeding neurotransmitter
            precursors and H4-biopterin
  JOURNAL   J Biol Chem 278 (30), 28303-28311 (2003)
   PUBMED   12734191
  REMARK    GeneRIF: ptps has a role in 6-pyruvoyltetrahydropterin synthase- or
            BH4-biosynthetic activity with IGF-1
REFERENCE   8  (bases 1 to 1160)
  AUTHORS   Sumi-Ichinose,C., Urano,F., Kuroda,R., Ohye,T., Kojima,M.,
            Tazawa,M., Shiraishi,H., Hagino,Y., Nagatsu,T., Nomura,T. and
            Ichinose,H.
  TITLE     Catecholamines and serotonin are differently regulated by
            tetrahydrobiopterin. A study from 6-pyruvoyltetrahydropterin
            synthase knockout mice
  JOURNAL   J Biol Chem 276 (44), 41150-41160 (2001)
   PUBMED   11517215
REFERENCE   9  (bases 1 to 1160)
  AUTHORS   Thony,B., Auerbach,G. and Blau,N.
  TITLE     Tetrahydrobiopterin biosynthesis, regeneration and functions
  JOURNAL   Biochem J 347 Pt 1 (Pt 1), 1-16 (2000)
   PUBMED   10727395
  REMARK    Review article
REFERENCE   10 (bases 1 to 1160)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC127254.3.
            
            On Jul 12, 2022 this sequence version replaced XM_036154720.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7345562.2680140.1,
                                           SRR9219381.60603.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-100               AC127254.3         147781-147880       c
            101-180             AC127254.3         146094-146173       c
            181-312             AC127254.3         144377-144508       c
            313-369             AC127254.3         143947-144003       c
            370-440             AC127254.3         141753-141823       c
            441-1160            AC127254.3         140841-141560       c
FEATURES             Location/Qualifiers
     source          1..1160
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="9"
                     /map="9 27.73 cM"
     gene            1..1160
                     /gene="Pts"
                     /gene_synonym="PTPS"
                     /note="6-pyruvoyl-tetrahydropterin synthase"
                     /db_xref="GeneID:19286"
                     /db_xref="MGI:MGI:1338783"
     exon            1..100
                     /gene="Pts"
                     /gene_synonym="PTPS"
                     /inference="alignment:Splign:2.1.0"
     exon            101..180
                     /gene="Pts"
                     /gene_synonym="PTPS"
                     /inference="alignment:Splign:2.1.0"
     exon            181..312
                     /gene="Pts"
                     /gene_synonym="PTPS"
                     /inference="alignment:Splign:2.1.0"
     exon            313..369
                     /gene="Pts"
                     /gene_synonym="PTPS"
                     /inference="alignment:Splign:2.1.0"
     CDS             331..564
                     /gene="Pts"
                     /gene_synonym="PTPS"
                     /EC_number="4.2.3.12"
                     /note="isoform 2 is encoded by transcript variant 9;
                     6-pyruvoyl tetrahydrobiopterin synthase; PTP synthase"
                     /codon_start=1
                     /product="6-pyruvoyl tetrahydrobiopterin synthase isoform
                     2"
                     /protein_id="NP_001396115.1"
                     /db_xref="GeneID:19286"
                     /db_xref="MGI:MGI:1338783"
                     /translation="MVMNLTDLKEYMEEAIMKPLDHKNLDLDVPYFADAVSTTENVAV
                     YIWESLQKLLPVGALYKVKVFETDNNIVVYKGE"
     exon            370..440
                     /gene="Pts"
                     /gene_synonym="PTPS"
                     /inference="alignment:Splign:2.1.0"
     exon            441..1160
                     /gene="Pts"
                     /gene_synonym="PTPS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1138..1143
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pts"
                     /gene_synonym="PTPS"
                     /note="hexamer: AATAAA"
     polyA_site      1160
                     /gene="Pts"
                     /gene_synonym="PTPS"
                     /note="major polyA site"
ORIGIN      
        1 gagtcttcgg tccgaagacc atgagcgcgg cgggtgacct tcgtcgccgc gcgcgactgt
       61 cgcgcctcgt gtccttcagc gcgagccacc ggctgcacag cccatctctg agcgatgaag
      121 agaacttaag agtgtttggg aaatgcaaca atccgaatgg ccacgggcac aactataaag
      181 ttgtggtgac agtccatgga gaggtacgtg ctggaaaggg gctgtgaatt tgttcagatc
      241 gtggggccac cttccagaca ctggtgaagt ctgtgttgaa agcttgtgtt tcagttgctt
      301 catggctgtg tgattgatcc tgttacagga atggttatga atttgaccga cctcaaagaa
      361 tacatggagg aggccatcat gaagcctctt gatcacaaga acctggacct ggatgtgccg
      421 tactttgcgg atgctgtgag cacgacagaa aatgtagctg tctacatctg ggaaagcctc
      481 cagaaacttc ttccagtggg agctctttat aaagtaaaag tgtttgaaac cgacaacaac
      541 atcgtagtct ataaaggaga ataggtctta gggttgctat tgtagacagg cacatttctt
      601 ttcacacttg aaaaaggctt tgtccttcca gagttcgcag cagtcaccac atgcttgtgt
      661 ctccatgttc tgttctagag tacccgagca ttaaagtaat gtaaggcctg tatttagatg
      721 tatttacgaa tcaaactttc agtgtatcct gcatgtggtt ttggtgagaa ggtagagaag
      781 gattgaggat tgacaccagg gcctcacacg ggaagcatag actcttctga agtgcattcc
      841 agtcctctca aggctattta gagggtcttt tatctagagg tttaaaatta tttcatcttg
      901 ggctggagag atggctcagc cgttaagtac actgactgtt cttccagagg tcctgagttc
      961 aattcccaga aaccacatga tggctcacaa ccatctataa agggatctga tgccctcttc
     1021 tggcatgtag ttgtacatgc agacaaagca ttcctacatt aaaaaaaata cataaataaa
     1081 atttaaaaat aatttcattt gagcaaaatg ttttgatgtg gaattatgca aaggtaaaat
     1141 aaacccattt ttgttatcta
//
