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Aliases for PTS Gene

Aliases for PTS Gene

  • 6-Pyruvoyltetrahydropterin Synthase 2 3
  • PTP Synthase 3 4
  • PTPS 3 4
  • 6-Pyruvoyl Tetrahydrobiopterin Synthase 3
  • EC 4.2.3.12 4

External Ids for PTS Gene

Previous GeneCards Identifiers for PTS Gene

  • GC11P114450
  • GC11P113609
  • GC11P112130
  • GC11P111634
  • GC11P111602
  • GC11P112097
  • GC11P108022

Summaries for PTS Gene

Entrez Gene Summary for PTS Gene

  • 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]

GeneCards Summary for PTS Gene

PTS (6-Pyruvoyltetrahydropterin Synthase) is a Protein Coding gene. Diseases associated with PTS include hyperphenylalaninemia, bh4-deficient, a and hyperphenylalaninemia. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and 6-pyruvoyltetrahydropterin synthase activity.

UniProtKB/Swiss-Prot for PTS Gene

  • Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin.

Gene Wiki entry for PTS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTS Gene

Genomics for PTS Gene

Regulatory Elements for PTS Gene

Genomic Location for PTS Gene

Start:
112,226,365 bp from pter
End:
112,269,955 bp from pter
Size:
43,591 bases
Orientation:
Plus strand

Genomic View for PTS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PTS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTS Gene

Proteins for PTS Gene

  • Protein details for PTS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q03393-PTPS_HUMAN
    Recommended name:
    6-pyruvoyl tetrahydrobiopterin synthase
    Protein Accession:
    Q03393
    Secondary Accessions:
    • B0YJ87
    • Q8WVG8

    Protein attributes for PTS Gene

    Size:
    145 amino acids
    Molecular mass:
    16386 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    • Homohexamer formed of two homotrimers in a head to head fashion
    Miscellaneous:
    • The active site is at the interface between 2 subunits. The proton acceptor Cys is on one subunit, and the charge relay system is on the other subunit

    Three dimensional structures from OCA and Proteopedia for PTS Gene

neXtProt entry for PTS Gene

Proteomics data for PTS Gene at MOPED

Post-translational modifications for PTS Gene

  • Phosphorylation of Ser-19 is required for maximal enzyme activity.
  • Ubiquitination at Lys29
  • Modification sites at PhosphoSitePlus

Other Protein References for PTS Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for PTS Gene

Domains for PTS Gene

Protein Domains for PTS Gene

Suggested Antigen Peptide Sequences for PTS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q03393

UniProtKB/Swiss-Prot:

PTPS_HUMAN :
  • Q03393
Family:
  • Belongs to the PTPS family.
genes like me logo Genes that share domains with PTS: view

No data available for Gene Families for PTS Gene

Function for PTS Gene

Molecular function for PTS Gene

GENATLAS Biochemistry: 6-pyruvoyl-tetrahydrobiopterin synthase,catalyzing the second step of tetrahydrobiopterin (BH4) synthesis
UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=8.1 uM for 7,8-dihydroneopterin triphosphate {ECO:0000269 PubMed:10531334}; Vmax=120 nmol/min/mg enzyme {ECO:0000269 PubMed:10531334};
UniProtKB/Swiss-Prot CatalyticActivity: 7,8-dihydroneopterin 3-triphosphate = 6-pyruvoyl-5,6,7,8-tetrahydropterin + triphosphate.
UniProtKB/Swiss-Prot Function: Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin.

Enzyme Numbers (IUBMB) for PTS Gene

Gene Ontology (GO) - Molecular Function for PTS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003874 6-pyruvoyltetrahydropterin synthase activity TAS --
GO:0005515 protein binding IPI 25416956
GO:0042802 identical protein binding IPI 16169070
GO:0042803 protein homodimerization activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PTS: view
genes like me logo Genes that share phenotypes with PTS: view

Animal Models for PTS Gene

MGI Knock Outs for PTS:

miRNA for PTS Gene

No data available for Transcription Factor Targeting and HOMER Transcription for PTS Gene

Localization for PTS Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PTS Gene COMPARTMENTS Subcellular localization image for PTS gene
Compartment Confidence
cytosol 4
mitochondrion 4
endoplasmic reticulum 2
extracellular 2
nucleus 2
plasma membrane 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PTS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PTS: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PTS Gene

Pathways for PTS Gene

genes like me logo Genes that share pathways with PTS: view

UniProtKB/Swiss-Prot Q03393-PTPS_HUMAN

  • Pathway: Cofactor biosynthesis; tetrahydrobiopterin biosynthesis; tetrahydrobiopterin from 7,8-dihydroneopterin triphosphate: step 1/3

Gene Ontology (GO) - Biological Process for PTS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006520 cellular amino acid metabolic process TAS 3308682
GO:0006729 tetrahydrobiopterin biosynthetic process IEA --
GO:0007417 central nervous system development TAS 3308682
GO:0044281 small molecule metabolic process TAS --
GO:0046209 nitric oxide metabolic process TAS --
genes like me logo Genes that share ontologies with PTS: view

Compounds for PTS Gene

(6) HMDB Compounds for PTS Gene

Compound Synonyms Cas Number PubMed IDs
2-Amino-4-oxo-6-(1',2'-dioxoprolyl)-7,8-dihydroxypteridine
  • 2-amino-4-oxo-6-(1',2'-dioxoprolyl)-7,8-dihydroxypteridine
Not Available
7,8-Dihydroneopterin
  • 2-Amino-4-hydroxy-6-(D-erythro-1',2',3'-trihydroxypropyl)-7,8-dihydropteridine
1218-98-0
Dihydroneopterin triphosphate
  • 2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl) dihydropteridine triphosphate
20574-65-6
Dyspropterin
  • 6-(1,2-dioxopropyl)-5,6,7,8-tetrahydropterin
89687-39-8
Tetrahydrobiopterin
  • (1R,2S)-(2-Amino-3,4,5,6,7,8-hexahydro-4-oxo-6-pteridinyl)-1,2-propandiol
17528-72-2

(1) Drugbank Compounds for PTS Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Biopterin
target

(69) Novoseek inferred chemical compound relationships for PTS Gene

Compound -log(P) Hits PubMed IDs
6-pyruvoyltetrahydropterin 97.9 130
tetrahydrobiopterin 90.4 49
dihydropteridine 90.1 13
tyrosine 87.4 138
sepiapterin 86.8 23
genes like me logo Genes that share compounds with PTS: view

Transcripts for PTS Gene

Unigene Clusters for PTS Gene

6-pyruvoyltetrahydropterin synthase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PTS Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b
SP1: - - -
SP2: - - - -
SP3: - - - - - - - -
SP4: - - - - -
SP5: - - - -
SP6:
SP7:

Relevant External Links for PTS Gene

GeneLoc Exon Structure for
PTS
ECgene alternative splicing isoforms for
PTS

Expression for PTS Gene

mRNA expression in normal human tissues for PTS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PTS Gene

SOURCE GeneReport for Unigene cluster for PTS Gene Hs.503860

genes like me logo Genes that share expressions with PTS: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PTS Gene

Orthologs for PTS Gene

This gene was present in the common ancestor of animals.

Orthologs for PTS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTS 35
  • 99.54 (n)
  • 98.62 (a)
PTS 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PTS 35
  • 86.67 (n)
  • 84.83 (a)
PTS 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTS 35
  • 90.05 (n)
  • 88.81 (a)
PTS 36
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pts 35
  • 83.1 (n)
  • 82.64 (a)
Pts 16
Pts 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PTS 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTS 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pts 35
  • 85.37 (n)
  • 84.17 (a)
chicken
(Gallus gallus)
Aves PTS 35
  • 77.61 (n)
  • 79.85 (a)
PTS 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTS 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.9800 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487259 35
  • 67.67 (n)
  • 69.92 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13866 35
zebrafish
(Danio rerio)
Actinopterygii pts 35
  • 70.4 (n)
  • 71.64 (a)
PTS 36
  • 50 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008730 35
  • 62.77 (n)
  • 59.12 (a)
fruit fly
(Drosophila melanogaster)
Insecta pr 35
  • 59.65 (n)
  • 58.65 (a)
pr 36
  • 46 (a)
OneToOne
pr 37
  • 58 (a)
worm
(Caenorhabditis elegans)
Secernentea ptps-1 35
  • 59.23 (n)
  • 54.62 (a)
ptps-1 36
  • 50 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5439 36
  • 54 (a)
OneToOne
Species with no ortholog for PTS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PTS Gene

ENSEMBL:
Gene Tree for PTS (if available)
TreeFam:
Gene Tree for PTS (if available)

Paralogs for PTS Gene

genes like me logo Genes that share paralogs with PTS: view

No data available for Paralogs for PTS Gene

Variants for PTS Gene

Sequence variations from dbSNP and Humsavar for PTS Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs1126546 -- 112,233,806(+) TTTCA(A/C)AAAAT utr-variant-3-prime
rs2019209 -- 112,224,395(-) TAAAA(A/C)AAAAT upstream-variant-2KB
rs2435289 -- 112,224,976(-) ccctt(C/T)gtcag upstream-variant-2KB
rs2435290 -- 112,224,961(-) gtaga(C/T)tgcaa upstream-variant-2KB
rs2518348 -- 112,225,914(+) cttgc(C/T)ctatt upstream-variant-2KB

Relevant External Links for PTS Gene

HapMap Linkage Disequilibrium report
PTS
Human Gene Mutation Database (HGMD)
PTS
Locus Specific Mutation Databases (LSDB)
PTS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PTS Gene

Disorders for PTS Gene

(1) OMIM Diseases for PTS Gene (612719)

UniProtKB/Swiss-Prot

PTPS_HUMAN
  • Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]: An autosomal recessive disorder characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits. Neurological symptoms are unresponsive to the classic phenylalanine-low diet. {ECO:0000269 PubMed:10220141, ECO:0000269 PubMed:10585341, ECO:0000269 PubMed:10874306, ECO:0000269 PubMed:11388593, ECO:0000269 PubMed:7698774, ECO:0000269 PubMed:8178819, ECO:0000269 PubMed:8707300, ECO:0000269 PubMed:9159737, ECO:0000269 PubMed:9222757, ECO:0000269 PubMed:9450907}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for PTS Gene

(32) Novoseek inferred disease relationships for PTS Gene

Disease -log(P) Hits PubMed IDs
hyperphenylalaninemia 91.9 31
gtp cyclohydrolase i deficiency 82 2
phenylketonuria classical 75 1
phenylketonurias 48 5
tyrosinemias 34.6 1

Genatlas disease for PTS Gene

hyperphenylalaninemia (phenylketonuria variant) with dystonia and progressive neurological degeneration (tetrahydrobiopterin BH4 synthesis deficiency)

Relevant External Links for PTS

Genetic Association Database (GAD)
PTS
Human Genome Epidemiology (HuGE) Navigator
PTS
genes like me logo Genes that share disorders with PTS: view

Publications for PTS Gene

  1. Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme. (PMID: 1282802) Thoeny B. … Heizmann C.W. (Biochem. Biophys. Res. Commun. 1992) 3 4 23
  2. Structural and functional consequences of mutations in 6- pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity. (PMID: 7493990) Oppliger T. … Blau N. (J. Biol. Chem. 1995) 3 4 23
  3. A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. (PMID: 7698774) Ashida A. … Hatakeyama K. (Genomics 1994) 3 4 23
  4. cDNA cloning, expression in Escherichia coli and purification of human 6-pyruvoyl-tetrahydropterin synthase. (PMID: 8216273) Ashida A. … Kagamiyama H. (Biochem. Biophys. Res. Commun. 1993) 3 4 23
  5. Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl- tetrahydropterin synthase. (PMID: 8178819) Thoeny B. … Heizmann C.W. (Am. J. Hum. Genet. 1994) 3 4 23

Products for PTS Gene

  • Addgene plasmids for PTS

Sources for PTS Gene

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