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Pts 6-pyruvoyl-tetrahydropterin synthase [ Mus musculus (house mouse) ]

Gene ID: 19286, updated on 21-Apr-2024

Summary

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Official Symbol
Ptsprovided by MGI
Official Full Name
6-pyruvoyl-tetrahydropterin synthaseprovided by MGI
Primary source
MGI:MGI:1338783
See related
Ensembl:ENSMUSG00000032067 AllianceGenome:MGI:1338783
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
PTPS
Summary
Enables 6-pyruvoyltetrahydropterin synthase activity and identical protein binding activity. Acts upstream of or within tetrahydrobiopterin biosynthetic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study BH4-deficient hyperphenylalaninemia A. 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, Apr 2022]
Expression
Ubiquitous expression in bladder adult (RPKM 25.3), placenta adult (RPKM 13.9) and 27 other tissues See more
Orthologs
human all
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Genomic context

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Location:
9 A5.3; 9 27.73 cM
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (50432917..50440017, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (50521617..50528716, complement)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 32462 Neighboring gene STARR-seq mESC enhancer starr_24112 Neighboring gene heat shock protein 90, alpha (cytosolic), class A member 1 pseudogene Neighboring gene placenta expressed transcript 1, opposite strand Neighboring gene placenta expressed transcript 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:50341457-50341566 Neighboring gene beta-carotene oxygenase 2 Neighboring gene interleukin 18 Neighboring gene testis expressed 12

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Catecholamines and serotonin are differently regulated by tetrahydrobiopterin. A study from 6-pyruvoyltetrahydropterin synthase knockout mice. Sumi-Ichinose C, et al. J Biol Chem, 2001 Nov 2. PMID 11517215
  2. Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia. Sato K, et al. Proc Natl Acad Sci U S A, 2008 Aug 26. PMID 18713855, Free PMC Article
  3. Genetically rescued tetrahydrobiopterin-depleted mice survive with hyperphenylalaninemia and region-specific monoaminergic abnormalities. Sumi-Ichinose C, et al. J Neurochem, 2005 Nov. PMID 16135092
  4. Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin. Elzaouk L, et al. J Biol Chem, 2003 Jul 25. PMID 12734191
  5. Structure, genomic localization and recombinant expression of the mouse 6-pyruvoyl-tetrahydropterin synthase gene. Turri MO, et al. Biol Chem, 1998 Dec. PMID 9894812

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. biopterin contents in the brains of these knock-out mice were moderately decreased from postnatal day 0 (P0) and remained constant up to P21
    Title: Partial biopterin deficiency disturbs postnatal development of the dopaminergic system in the brain.
  2. ptps has a role in 6-pyruvoyltetrahydropterin synthase- or BH4-biosynthetic activity with IGF-1
    Title: Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (4)  1 citation
  • Endonuclease-mediated (2) 

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

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 6-pyruvoyltetrahydropterin synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables 6-pyruvoyltetrahydropterin synthase activity ISO
Inferred from Sequence Orthology
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables lyase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within tetrahydrobiopterin biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
6-pyruvoyl tetrahydrobiopterin synthase
Names
PTP synthase
NP_001351417.1
NP_001351418.1
NP_001351419.1
NP_001396111.1
NP_001396112.1
NP_001396113.1
NP_001396114.1
NP_001396115.1
NP_001396116.1
NP_001396117.1
NP_001396118.1
NP_001396119.1
NP_001396120.1
NP_001396121.1
NP_001396122.1
NP_001396123.1
NP_001396124.1
NP_001396125.1
NP_001396126.1
NP_001396127.1
NP_001396128.1
NP_001396129.1
NP_001396130.1
NP_001396131.1
NP_001396132.1
NP_001396133.1
NP_001396134.1
NP_001396135.1
NP_001396136.1
NP_001396138.1
NP_001396139.1
NP_001396140.1
NP_001396143.1
NP_035350.1
XP_036010607.1
XP_036010610.1
XP_036010611.1
XP_036010614.1
XP_036010615.1

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.

mRNA and Protein(s)

  1. NM_001364488.1 → NP_001351417.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    BC019660, BY270052
    Consensus CDS
    CCDS90561.1
    UniProtKB/TrEMBL
    A0A1L1SRN0
    Related
    ENSMUSP00000149552.2, ENSMUST00000215416.2
    Conserved Domains (1) summary
    cl00263
    Location:1 → 77
    TFold; Tunnelling fold (T-fold). The five known T-folds are found in five different enzymes with different functions: dihydroneopterin-triphosphate epimerase (DHNTPE), dihydroneopterin aldolase (DHNA) , GTP cyclohydrolase I (GTPCH-1), 6-pyrovoyl ...

  2. NM_001364489.1 → NP_001351418.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    Consensus CDS
    CCDS90561.1
    UniProtKB/TrEMBL
    A0A1L1SRN0
    Related
    ENSMUSP00000150693.2, ENSMUST00000214873.2
    Conserved Domains (1) summary
    cl00263
    Location:1 → 77
    TFold; Tunnelling fold (T-fold). The five known T-folds are found in five different enzymes with different functions: dihydroneopterin-triphosphate epimerase (DHNTPE), dihydroneopterin aldolase (DHNA) , GTP cyclohydrolase I (GTPCH-1), 6-pyrovoyl ...

  3. NM_001364490.1 → NP_001351419.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    Consensus CDS
    CCDS90561.1
    UniProtKB/TrEMBL
    A0A1L1SRN0
    Conserved Domains (1) summary
    cl00263
    Location:1 → 77
    TFold; Tunnelling fold (T-fold). The five known T-folds are found in five different enzymes with different functions: dihydroneopterin-triphosphate epimerase (DHNTPE), dihydroneopterin aldolase (DHNA) , GTP cyclohydrolase I (GTPCH-1), 6-pyrovoyl ...

  4. NM_001409182.1 → NP_001396111.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  5. NM_001409183.1 → NP_001396112.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  6. NM_001409184.1 → NP_001396113.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  7. NM_001409185.1 → NP_001396114.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  8. NM_001409186.1 → NP_001396115.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  9. NM_001409187.1 → NP_001396116.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  10. NM_001409188.1 → NP_001396117.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  11. NM_001409189.1 → NP_001396118.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  12. NM_001409190.1 → NP_001396119.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  13. NM_001409191.1 → NP_001396120.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  14. NM_001409192.1 → NP_001396121.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  15. NM_001409193.1 → NP_001396122.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  16. NM_001409194.1 → NP_001396123.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  17. NM_001409195.1 → NP_001396124.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  18. NM_001409196.1 → NP_001396125.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  19. NM_001409197.1 → NP_001396126.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  20. NM_001409198.1 → NP_001396127.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  21. NM_001409199.1 → NP_001396128.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  22. NM_001409200.1 → NP_001396129.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  23. NM_001409201.1 → NP_001396130.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  24. NM_001409202.1 → NP_001396131.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC127254
    UniProtKB/TrEMBL
    A0A1L1SRN0

  25. NM_001409203.1 → NP_001396132.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC127254

  26. NM_001409204.1 → NP_001396133.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC127254

  27. NM_001409205.1 → NP_001396134.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC127254

  28. NM_001409206.1 → NP_001396135.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC127254

  29. NM_001409207.1 → NP_001396136.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC127254

  30. NM_001409209.1 → NP_001396138.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC127254

  31. NM_001409210.1 → NP_001396139.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC127254

  32. NM_001409211.1 → NP_001396140.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC127254

  33. NM_001409214.1 → NP_001396143.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC127254

  34. NM_011220.3 → NP_035350.1  6-pyruvoyl tetrahydrobiopterin synthase isoform 1

    See identical proteins and their annotated locations for NP_035350.1

    Status: VALIDATED

    Source sequence(s)
    BC029013, BY310869
    Consensus CDS
    CCDS23164.1
    UniProtKB/Swiss-Prot
    Q3UIB6, Q9R1Z7, Q9Z2N2
    Related
    ENSMUSP00000034570.6, ENSMUST00000034570.7
    Conserved Domains (2) summary
    cd00470
    Location:17 → 144
    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:17 → 144
    PTPS; 6-pyruvoyl tetrahydropterin synthase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    50432917..50440017 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036154722.1 → XP_036010615.1  6-pyruvoyl tetrahydrobiopterin synthase isoform X2

    UniProtKB/TrEMBL
    A0A1L1SRN0
    Conserved Domains (1) summary
    cl00263
    Location:1 → 77
    TFold; Tunnelling fold (T-fold). The five known T-folds are found in five different enzymes with different functions: dihydroneopterin-triphosphate epimerase (DHNTPE), dihydroneopterin aldolase (DHNA) , GTP cyclohydrolase I (GTPCH-1), 6-pyrovoyl ...

  2. XM_036154718.1 → XP_036010611.1  6-pyruvoyl tetrahydrobiopterin synthase isoform X2

    UniProtKB/TrEMBL
    A0A1L1SRN0
    Conserved Domains (1) summary
    cl00263
    Location:1 → 77
    TFold; Tunnelling fold (T-fold). The five known T-folds are found in five different enzymes with different functions: dihydroneopterin-triphosphate epimerase (DHNTPE), dihydroneopterin aldolase (DHNA) , GTP cyclohydrolase I (GTPCH-1), 6-pyrovoyl ...

  3. XM_036154717.1 → XP_036010610.1  6-pyruvoyl tetrahydrobiopterin synthase isoform X2

    UniProtKB/TrEMBL
    A0A1L1SRN0
    Conserved Domains (1) summary
    cl00263
    Location:1 → 77
    TFold; Tunnelling fold (T-fold). The five known T-folds are found in five different enzymes with different functions: dihydroneopterin-triphosphate epimerase (DHNTPE), dihydroneopterin aldolase (DHNA) , GTP cyclohydrolase I (GTPCH-1), 6-pyrovoyl ...

  4. XM_036154721.1 → XP_036010614.1  6-pyruvoyl tetrahydrobiopterin synthase isoform X2

    UniProtKB/TrEMBL
    A0A1L1SRN0
    Conserved Domains (1) summary
    cl00263
    Location:1 → 77
    TFold; Tunnelling fold (T-fold). The five known T-folds are found in five different enzymes with different functions: dihydroneopterin-triphosphate epimerase (DHNTPE), dihydroneopterin aldolase (DHNA) , GTP cyclohydrolase I (GTPCH-1), 6-pyrovoyl ...

  5. XM_036154714.1 → XP_036010607.1  6-pyruvoyl tetrahydrobiopterin synthase isoform X1

    Conserved Domains (1) summary
    cl00263
    Location:8 → 91
    TFold; Tunnelling fold (T-fold). The five known T-folds are found in five different enzymes with different functions: dihydroneopterin-triphosphate epimerase (DHNTPE), dihydroneopterin aldolase (DHNA) , GTP cyclohydrolase I (GTPCH-1), 6-pyrovoyl ...

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001409212.1: Suppressed sequence

    Description
    NM_001409212.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9R1Z7.2 GenPept UniProtKB/Swiss-Prot:Q9R1Z7

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