LOCUS       NM_001409196             971 bp    mRNA    linear   ROD 02-MAY-2024
DEFINITION  Mus musculus 6-pyruvoyl-tetrahydropterin synthase (Pts), transcript
            variant 19, mRNA.
ACCESSION   NM_001409196
VERSION     NM_001409196.1
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 971)
  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 971)
  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 971)
  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 971)
  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 971)
  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 971)
  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 971)
  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 971)
  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 971)
  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 971)
  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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR13422591.400673.1,
                                           SRR17784643.827473.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849385, SAMN01164134
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-100               AC127254.3         147781-147880       c
            101-123             AC127254.3         144486-144508       c
            124-180             AC127254.3         143947-144003       c
            181-251             AC127254.3         141753-141823       c
            252-971             AC127254.3         140841-141560       c
FEATURES             Location/Qualifiers
     source          1..971
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="9"
                     /map="9 27.73 cM"
     gene            1..971
                     /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..123
                     /gene="Pts"
                     /gene_synonym="PTPS"
                     /inference="alignment:Splign:2.1.0"
     exon            124..180
                     /gene="Pts"
                     /gene_synonym="PTPS"
                     /inference="alignment:Splign:2.1.0"
     CDS             142..375
                     /gene="Pts"
                     /gene_synonym="PTPS"
                     /EC_number="4.2.3.12"
                     /note="isoform 2 is encoded by transcript variant 19;
                     6-pyruvoyl tetrahydrobiopterin synthase; PTP synthase"
                     /codon_start=1
                     /product="6-pyruvoyl tetrahydrobiopterin synthase isoform
                     2"
                     /protein_id="NP_001396125.1"
                     /db_xref="GeneID:19286"
                     /db_xref="MGI:MGI:1338783"
                     /translation="MVMNLTDLKEYMEEAIMKPLDHKNLDLDVPYFADAVSTTENVAV
                     YIWESLQKLLPVGALYKVKVFETDNNIVVYKGE"
     exon            181..251
                     /gene="Pts"
                     /gene_synonym="PTPS"
                     /inference="alignment:Splign:2.1.0"
     exon            252..971
                     /gene="Pts"
                     /gene_synonym="PTPS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      949..954
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Pts"
                     /gene_synonym="PTPS"
                     /note="hexamer: AATAAA"
     polyA_site      971
                     /gene="Pts"
                     /gene_synonym="PTPS"
                     /note="major polyA site"
ORIGIN      
        1 gagtcttcgg tccgaagacc atgagcgcgg cgggtgacct tcgtcgccgc gcgcgactgt
       61 cgcgcctcgt gtccttcagc gcgagccacc ggctgcacag ttgtggtgac agtccatgga
      121 gagattgatc ctgttacagg aatggttatg aatttgaccg acctcaaaga atacatggag
      181 gaggccatca tgaagcctct tgatcacaag aacctggacc tggatgtgcc gtactttgcg
      241 gatgctgtga gcacgacaga aaatgtagct gtctacatct gggaaagcct ccagaaactt
      301 cttccagtgg gagctcttta taaagtaaaa gtgtttgaaa ccgacaacaa catcgtagtc
      361 tataaaggag aataggtctt agggttgcta ttgtagacag gcacatttct tttcacactt
      421 gaaaaaggct ttgtccttcc agagttcgca gcagtcacca catgcttgtg tctccatgtt
      481 ctgttctaga gtacccgagc attaaagtaa tgtaaggcct gtatttagat gtatttacga
      541 atcaaacttt cagtgtatcc tgcatgtggt tttggtgaga aggtagagaa ggattgagga
      601 ttgacaccag ggcctcacac gggaagcata gactcttctg aagtgcattc cagtcctctc
      661 aaggctattt agagggtctt ttatctagag gtttaaaatt atttcatctt gggctggaga
      721 gatggctcag ccgttaagta cactgactgt tcttccagag gtcctgagtt caattcccag
      781 aaaccacatg atggctcaca accatctata aagggatctg atgccctctt ctggcatgta
      841 gttgtacatg cagacaaagc attcctacat taaaaaaaat acataaataa aatttaaaaa
      901 taatttcatt tgagcaaaat gttttgatgt ggaattatgc aaaggtaaaa taaacccatt
      961 tttgttatct a
//
