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

Gene ID: 5805, updated on 7-Jul-2019

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
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
mouse all

Genomic context

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See PTS in Genome Data Viewer
Location:
11q23.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (112226428..112233973)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (112097088..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 ribosomal protein S12 pseudogene 21 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

Expression

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  • 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

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Related articles in PubMed

  1. 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
  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. [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
  4. [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
  5. Nuclear localization of tetrahydrobiopterin biosynthetic enzymes. Elzaouk L, et al. Biochim Biophys Acta, 2004 Jan 5. PMID 14729142

See all (61) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  1. 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.
  2. 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.
  3. 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].
  4. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Examination of tetrahydrobiopterin pathway genes in autism.
  5. 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.
  6. 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].
  7. We suggest that the serum prolactin level may be a more sensitive marker than the CSF HVA level to guide the dose adjustment of L-Dopa/carbidopa in the management of patients with PTPS deficiency.
    Title: A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  9. Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
    Title: Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations.
  10. Human PTS was efficiently expressed in noradrenergic regions but only in a small number of dopaminergic neurons.
    Title: Genetically rescued tetrahydrobiopterin-depleted mice survive with hyperphenylalaninemia and region-specific monoaminergic abnormalities.
Submit: New GeneRIF Correction See all GeneRIFs (13)

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-tetrahydropterin synthase deficiency
MedGen: C0878676 OMIM: 261640 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from BioSystems

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

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
    5001..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
    Q03393
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    112226428..112233973
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q03393.1 GenPept UniProtKB/Swiss-Prot:Q03393

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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