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

    Gene ID: 5805, updated on 7-Apr-2024

    Summary

    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
    NEW
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    Genomic context

    See PTS in Genome Data Viewer
    Location:
    11q23.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (112226428..112233973)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (112236776..112368893)
    105.20220307 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

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_000317.3NP_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:11145
      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:13145
      PTPS; 6-pyruvoyl tetrahydropterin synthase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_054369564.1XP_054225539.1  6-pyruvoyl tetrahydrobiopterin synthase isoform X3

      UniProtKB/Swiss-Prot
      B0YJ87, Q03393, Q8WVG8
    2. XM_054369563.1XP_054225538.1  6-pyruvoyl tetrahydrobiopterin synthase isoform X3

      UniProtKB/Swiss-Prot
      B0YJ87, Q03393, Q8WVG8
    3. XM_054369562.1XP_054225537.1  6-pyruvoyl tetrahydrobiopterin synthase isoform X2

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