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    PTS 6-pyruvoyltetrahydropterin synthase [ Homo sapiens (human) ]

    Gene ID: 5805, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PTSprovided by HGNC
    Official Full Name
    6-pyruvoyltetrahydropterin synthaseprovided by HGNC
    Primary source
    HGNC:HGNC:9689
    See related
    Ensembl:ENSG00000150787 MIM:612719; AllianceGenome:HGNC:9689
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PTPS
    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]
    Expression
    Ubiquitous expression in adrenal (RPKM 23.3), kidney (RPKM 11.8) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See PTS in Genome Data Viewer
    Location:
    11q23.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (112226428..112233973)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (112236776..112368893)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (112097151..112104696)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene beta-carotene oxygenase 2 Neighboring gene mitochondrial ribosomal protein S36 pseudogene 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:112090776-112090983 Neighboring gene ribosomal protein S12 pseudogene 21 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3906 Neighboring gene Sharpr-MPRA regulatory region 3969 Neighboring gene ribosomal protein S6 pseudogene 16 Neighboring gene placenta expressed transcript 1 Neighboring gene uncharacterized LOC100132686

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme. Thöny B, et al. Biochem Biophys Res Commun, 1992 Dec 30. PMID 1282802
    2. Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency. Vatanavicharn N, et al. J Inherit Metab Dis, 2009 Dec. PMID 19830588
    3. Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations. Chiu YH, et al. J Hum Genet, 2012 Feb. PMID 22237589
    4. [Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency]. Gu MQ, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2009 Apr. PMID 19350512
    5. [Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency]. Qu YJ, et al. Zhongguo Yi Xue Ke Xue Yuan Xue Bao, 2008 Apr. PMID 18505119

    See all (86) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BH4-deficient hyperphenylalaninemia in Russia.
      Title: BH4-deficient hyperphenylalaninemia in Russia.
    2. Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.
      Title: Molecular and metabolic bases of tetrahydrobiopterin (BH(4)) deficiencies.
    3. Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.
      Title: Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.
    4. Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.
      Title: Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.
    5. Severe neurological impairment from BH4 deficiency could be prevented by newborn screening for hyperphenylalaninemia (HPA) and proper metabolic management.
      Title: Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency.
    6. A total of 43 mutations were identified in the PTS gene in a screen of East Asian populations, comprising 22 previously reported mutations and 21 new discovered mutations.
      Title: Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
    7. The mutant characterization of PTPS gene was coincident with other early studies in Chinese. The novel mutation L127F was considered as a pathogenetic mutation and associated with severe clinical phenotype.
      Title: [Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency].
    8. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Examination of tetrahydrobiopterin pathway genes in autism.
    9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
    10. Hyperphenylalaninemia may be caused by deficiency of Phe hydroxylase or by deficiency of co-factor BH(4).
      Title: [Tetrahydrobiopterin loading test in differential diagnosis among hyperphenylalaninemia patients].
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
    MedGen: C0878676 OMIM: 261640 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ97081

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 6-pyruvoyltetrahydropterin synthase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in amino acid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in central nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in tetrahydrobiopterin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    6-pyruvoyl tetrahydrobiopterin synthase
    Names
    PTP synthase
    NP_000308.1
    XP_054225536.1
    XP_054225537.1
    XP_054225538.1
    XP_054225539.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008743.1 RefSeqGene

      Range
      5064..12609
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000317.3 → NP_000308.1  6-pyruvoyl tetrahydrobiopterin synthase

      See identical proteins and their annotated locations for NP_000308.1

      Status: REVIEWED

      Source sequence(s)
      AP002884, BC009686, CF529329
      Consensus CDS
      CCDS8359.1
      UniProtKB/Swiss-Prot
      B0YJ87, Q03393, Q8WVG8
      UniProtKB/TrEMBL
      A0A8E7SLS1, A0A8E7SPB8, A0A8H2S6I5
      Related
      ENSP00000280362.3, ENST00000280362.8
      Conserved Domains (2) summary
      cd00470
      Location:11 → 145
      PTPS; 6-pyruvoyl tetrahydropterin synthase (PTPS). Folate derivatives are essential cofactors in the biosynthesis of purines, pyrimidines, and amino acids, as well as formyl-tRNA. Mammalian cells are able to utilize pre-formed folates after uptake by a ...
      pfam01242
      Location:13 → 145
      PTPS; 6-pyruvoyl tetrahydropterin synthase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      112226428..112233973
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      112236776..112368893
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369564.1 → XP_054225539.1  6-pyruvoyl tetrahydrobiopterin synthase isoform X3

      UniProtKB/Swiss-Prot
      B0YJ87, Q03393, Q8WVG8
      UniProtKB/TrEMBL
      A0A8E7SLS1, A0A8E7SPB8, A0A8H2S6I5

    2. XM_054369563.1 → XP_054225538.1  6-pyruvoyl tetrahydrobiopterin synthase isoform X3

      UniProtKB/Swiss-Prot
      B0YJ87, Q03393, Q8WVG8
      UniProtKB/TrEMBL
      A0A8E7SLS1, A0A8E7SPB8, A0A8H2S6I5

    3. XM_054369562.1 → XP_054225537.1  6-pyruvoyl tetrahydrobiopterin synthase isoform X2

    4. XM_054369561.1 → XP_054225536.1  6-pyruvoyl tetrahydrobiopterin synthase isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q03393.1 GenPept UniProtKB/Swiss-Prot:Q03393

    Gene LinkOut

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