LOCUS       NM_000317                872 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens 6-pyruvoyltetrahydropterin synthase (PTS), mRNA.
ACCESSION   NM_000317
VERSION     NM_000317.3
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 872)
  AUTHORS   Himmelreich,N., Blau,N. and Thony,B.
  TITLE     Molecular and metabolic bases of tetrahydrobiopterin (BH4)
            deficiencies
  JOURNAL   Mol Genet Metab 133 (2), 123-136 (2021)
   PUBMED   33903016
  REMARK    GeneRIF: Molecular and metabolic bases of tetrahydrobiopterin (BH4)
            deficiencies.
            Review article
REFERENCE   2  (bases 1 to 872)
  AUTHORS   Gundorova,P., Kuznetcova,I.A., Baydakova,G.V., Stepanova,A.A.,
            Itkis,Y.S., Kakaulina,V.S., Alferova,I.P., Lyazina,L.V.,
            Andreeva,L.P., Kanivets,I., Zakharova,E.Y., Kutsev,S.I. and
            Polyakov,A.V.
  TITLE     BH4-deficient hyperphenylalaninemia in Russia
  JOURNAL   PLoS One 16 (4), e0249608 (2021)
   PUBMED   33822819
  REMARK    GeneRIF: BH4-deficient hyperphenylalaninemia in Russia.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 872)
  AUTHORS   Manzoni,F., Salvatici,E., Burlina,A., Andrews,A., Pasquali,M. and
            Longo,N.
  TITLE     Retrospective analysis of 19 patients with 6-Pyruvoyl
            Tetrahydropterin Synthase Deficiency: Prolactin levels inversely
            correlate with growth
  JOURNAL   Mol Genet Metab 131 (4), 380-389 (2020)
   PUBMED   33234470
  REMARK    GeneRIF: Retrospective analysis of 19 patients with 6-Pyruvoyl
            Tetrahydropterin Synthase Deficiency: Prolactin levels inversely
            correlate with growth.
REFERENCE   4  (bases 1 to 872)
  AUTHORS   Manti,F., Nardecchia,F., Banderali,G., Burlina,A., Carducci,C.,
            Carducci,C., Donati,M.A., Gueraldi,D., Paci,S., Pochiero,F.,
            Porta,F., Ortolano,R., Rovelli,V., Schiaffino,M.C., Spada,M.,
            Blau,N. and Leuzzi,V.
  TITLE     Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin
            synthase-deficient patients
  JOURNAL   Mol Genet Metab 131 (1-2), 155-162 (2020)
   PUBMED   32651154
  REMARK    GeneRIF: Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin
            synthase-deficient patients.
REFERENCE   5  (bases 1 to 872)
  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   6  (bases 1 to 872)
  AUTHORS   Kluge,C., Brecevic,L., Heizmann,C.W., Blau,N. and Thony,B.
  TITLE     Chromosomal localization, genomic structure and characterization of
            the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin
            synthase
  JOURNAL   Eur J Biochem 240 (2), 477-484 (1996)
   PUBMED   8841415
  REMARK    Erratum:[Eur J Biochem 1996 Oct 15;241(2):697]
REFERENCE   7  (bases 1 to 872)
  AUTHORS   Oppliger,T., Thony,B., Nar,H., Burgisser,D., Huber,R.,
            Heizmann,C.W. and Blau,N.
  TITLE     Structural and functional consequences of mutations in
            6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia
            in humans. Phosphorylation is a requirement for in vivo activity
  JOURNAL   J Biol Chem 270 (49), 29498-29506 (1995)
   PUBMED   7493990
REFERENCE   8  (bases 1 to 872)
  AUTHORS   Thony,B., Leimbacher,W., Burgisser,D. and Heizmann,C.W.
  TITLE     Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and
            heterologous expression of the recombinant enzyme
  JOURNAL   Biochem Biophys Res Commun 189 (3), 1437-1443 (1992)
   PUBMED   1282802
REFERENCE   9  (bases 1 to 872)
  AUTHORS   Werner,E.R., Werner-Felmayer,G., Fuchs,D., Hausen,A.,
            Reibnegger,R., Yim,J.J. and Wachter,H.
  TITLE     Biochemistry and function of pteridine synthesis in human and
            murine macrophages
  JOURNAL   Pathobiology 59 (4), 276-279 (1991)
   PUBMED   1883524
  REMARK    Review article
REFERENCE   10 (bases 1 to 872)
  AUTHORS   Scriver,C.R., Clow,C.L., Kaplan,P. and Niederwieser,A.
  TITLE     Hyperphenylalaninemia due to deficiency of 6-pyruvoyl
            tetrahydropterin synthase. Unusual gene dosage effect in
            heterozygotes
  JOURNAL   Hum Genet 77 (2), 168-171 (1987)
   PUBMED   3308682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC009686.1, AP002884.5 and
            CF529329.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000317.2.
            
            Summary: The enzyme encoded by this gene catalyzes the elimination
            of inorganic triphosphate from dihydroneopterin triphosphate, which
            is the second and irreversible step in the biosynthesis of
            tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as
            BH(4), is an essential cofactor and regulator of various enzyme
            activities, including enzymes involved in serotonin biosynthesis
            and NO synthase activity. Mutations in this gene result in
            hyperphenylalaninemia. [provided by RefSeq, Oct 2008].
            
            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 :: BG505490.1, SRR5189652.109963.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000280362.8/ ENSP00000280362.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-709               BC009686.1         28-736
            710-865             AP002884.5         85038-85193
            866-872             CF529329.1         14-20               c
FEATURES             Location/Qualifiers
     source          1..872
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.1"
     gene            1..872
                     /gene="PTS"
                     /gene_synonym="PTPS"
                     /note="6-pyruvoyltetrahydropterin synthase"
                     /db_xref="GeneID:5805"
                     /db_xref="HGNC:HGNC:9689"
                     /db_xref="MIM:612719"
     exon            1..99
                     /gene="PTS"
                     /gene_synonym="PTPS"
                     /inference="alignment:Splign:2.1.0"
     CDS             17..454
                     /gene="PTS"
                     /gene_synonym="PTPS"
                     /EC_number="4.2.3.12"
                     /note="PTP synthase"
                     /codon_start=1
                     /product="6-pyruvoyl tetrahydrobiopterin synthase"
                     /protein_id="NP_000308.1"
                     /db_xref="CCDS:CCDS8359.1"
                     /db_xref="GeneID:5805"
                     /db_xref="HGNC:HGNC:9689"
                     /db_xref="MIM:612719"
                     /translation="MSTEGGGRRCQAQVSRRISFSASHRLYSKFLSDEENLKLFGKCN
                     NPNGHGHNYKVVVTVHGEIDPATGMVMNLADLKKYMEEAIMQPLDHKNLDMDVPYFAD
                     VVSTTENVAVYIWDNLQKVLPVGVLYKVKVYETDNNIVVYKGE"
     exon            100..179
                     /gene="PTS"
                     /gene_synonym="PTPS"
                     /inference="alignment:Splign:2.1.0"
     exon            180..202
                     /gene="PTS"
                     /gene_synonym="PTPS"
                     /inference="alignment:Splign:2.1.0"
     exon            203..259
                     /gene="PTS"
                     /gene_synonym="PTPS"
                     /inference="alignment:Splign:2.1.0"
     exon            260..330
                     /gene="PTS"
                     /gene_synonym="PTPS"
                     /inference="alignment:Splign:2.1.0"
     exon            331..872
                     /gene="PTS"
                     /gene_synonym="PTPS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      683..688
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTS"
                     /gene_synonym="PTPS"
                     /note="hexamer: ATTAAA"
     polyA_site      709
                     /gene="PTS"
                     /gene_synonym="PTPS"
                     /note="major polyA site"
     regulatory      850..855
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTS"
                     /gene_synonym="PTPS"
                     /note="hexamer: AATAAA"
     polyA_site      872
                     /gene="PTS"
                     /gene_synonym="PTPS"
ORIGIN      
        1 agacagcgcc gggaagatga gcacggaagg tggtggccgt cgctgccagg cacaagtgtc
       61 ccgccgcatc tccttcagcg cgagccaccg attgtacagt aaatttctaa gtgatgaaga
      121 aaacttgaaa ctgtttggga aatgcaacaa tccaaatggc catgggcaca attataaagt
      181 tgtggtgaca gtacatggag agattgaccc tgctacggga atggttatga atctggctga
      241 tctcaaaaaa tatatggagg aggcgattat gcagcccctt gatcataaga atctggatat
      301 ggatgtgcca tactttgcag atgtggtgag cacgactgaa aatgtagctg tttatatctg
      361 ggacaacctc cagaaagttc ttcctgtagg agttctttat aaagtaaaag tatacgaaac
      421 tgacaataat attgtggttt ataaaggaga atagctattg gggttagcat tgcacaaagc
      481 ccagtttctt tctgtgtttg aaaaagattt tgatcccctt ggaatattaa gaggtcaaca
      541 cgtgattgtt gtacgtacac attgtgctct ggagtgccta tttattgaaa tcattgtaag
      601 acctgttata aatttaagtc tatttaaaac taaacttgta atatacatcc tgaaaatcat
      661 ttagagagtc ttttatttat aaattaaaaa tcacttcatt ttcacaaaat gttttggtgt
      721 gggattattt gaaagcaaaa gaaatctaat tttgttttct ccattacctc attttagtat
      781 taatttttac ttggtataat atacatggtt aaaatgctta tgtgacttcg agtaggtgaa
      841 tcttaaagaa ataaaattca agtgaccaca aa
//
