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    Pts 6-pyruvoyl-tetrahydropterin synthase [ Rattus norvegicus (Norway rat) ]

    Gene ID: 29498, updated on 27-Nov-2024

    Summary

    Official Symbol
    Ptsprovided by RGD
    Official Full Name
    6-pyruvoyl-tetrahydropterin synthaseprovided by RGD
    Primary source
    RGD:68367
    See related
    EnsemblRapid:ENSRNOG00000009250 AllianceGenome:RGD:68367
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Enables 6-pyruvoyltetrahydropterin synthase activity. Predicted to act upstream of or within tetrahydrobiopterin biosynthetic process. Predicted to be located in cytoplasm. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in BH4-deficient hyperphenylalaninemia A and phenylketonuria. Orthologous to human PTS (6-pyruvoyltetrahydropterin synthase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Kidney (RPKM 110.2), Liver (RPKM 64.4) and 9 other tissues See more
    Orthologs
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    Genomic context

    See Pts in Genome Data Viewer
    Location:
    8q23
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 8 NC_086026.1 (59767234..59774265, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 8 NC_051343.1 (50870838..50877869, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 8 NC_005107.4 (54954261..54961271, complement)

    Chromosome 8 - NC_086026.1Genomic Context describing neighboring genes Neighboring gene phosphoglycerate mutase 1, pseudogene 13 Neighboring gene placenta expressed transcript 1 Neighboring gene beta-carotene oxygenase 2 Neighboring gene testis expressed 12 Neighboring gene interleukin 18

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Pathways from PubChem

    General gene information

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables 6-pyruvoyltetrahydropterin synthase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables 6-pyruvoyltetrahydropterin synthase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables 6-pyruvoyltetrahydropterin synthase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    6-pyruvoyl tetrahydrobiopterin synthase
    Names
    6-pyruvoyltetrahydropterin synthase
    PTP synthase
    PTPS
    NP_001396444.1
    NP_001396445.1
    NP_058916.1

    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.

    mRNA and Protein(s)

    1. NM_001409515.1NP_001396444.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000008
      UniProtKB/TrEMBL
      A6J4D5
    2. NM_001409516.1NP_001396445.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 3

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000008
      UniProtKB/TrEMBL
      A6J4D6
    3. NM_017220.2NP_058916.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 1

      See identical proteins and their annotated locations for NP_058916.1

      Status: PROVISIONAL

      Source sequence(s)
      JAXUCZ010000008
      UniProtKB/Swiss-Prot
      P27213
      UniProtKB/TrEMBL
      A0A8I6AM88, A6J4D4
      Related
      ENSRNOP00000012434.1, ENSRNOT00000012434.5
      Conserved Domains (1) summary
      cd00470
      Location:17144
      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 ...

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086026.1 Reference GRCr8

      Range
      59767234..59774265 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)