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

Gene ID: 5805, updated on 14-Jul-2025
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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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

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia. Scherer-Oppliger T, et al. Hum Mutat, 1999. PMID 10220141
  2. 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
  3. 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
  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 (87) 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)

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

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

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 6-pyruvoyltetrahydropterin synthase activity TAS
Traceable Author Statement
more info
 PubMed 
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables lyase activity IEA
Inferred from Electronic Annotation
more info
  
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 
acts_upstream_of_or_within tetrahydrobiopterin biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in tetrahydrobiopterin biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in tetrahydrobiopterin biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in tetrahydrobiopterin metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in cytosol IEA
Inferred from Electronic Annotation
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
  
Preferred Names
6-pyruvoyl tetrahydrobiopterin synthase
Names
PTP synthase
NP_000308.1
XP_054225536.1
XP_054225537.1
XP_054225538.1
XP_054225539.1

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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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