Human Gene PTS (ENST00000280362.8_4) from GENCODE V47lift37
  Description: 6-pyruvoyltetrahydropterin synthase (from RefSeq NM_000317.3)
Gencode Transcript: ENST00000280362.8_4
Gencode Gene: ENSG00000150787.8_8
Transcript (Including UTRs)
   Position: hg19 chr11:112,097,151-112,104,696 Size: 7,546 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr11:112,097,167-112,104,278 Size: 7,112 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:112,097,151-112,104,696)mRNA (may differ from genome)Protein (145 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PTPS_HUMAN
DESCRIPTION: RecName: Full=6-pyruvoyl tetrahydrobiopterin synthase; Short=PTP synthase; Short=PTPS; EC=4.2.3.12;
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.
CATALYTIC ACTIVITY: 7,8-dihydroneopterin 3'-triphosphate = 6- pyruvoyl-5,6,7,8-tetrahydropterin + triphosphate.
COFACTOR: Binds 1 zinc ion per subunit (By similarity).
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=8.1 uM for 7,8-dihydroneopterin triphosphate; Vmax=120 nmol/min/mg enzyme;
PATHWAY: Cofactor biosynthesis; tetrahydrobiopterin biosynthesis; tetrahydrobiopterin from 7,8-dihydroneopterin triphosphate: step 1/3.
SUBUNIT: Homohexamer formed of two homotrimers in a head to head fashion.
INTERACTION: Self; NbExp=3; IntAct=EBI-712344, EBI-712344;
PTM: Phosphorylation of Ser-19 is required for maximal enzyme activity.
DISEASE: Defects in PTS are the cause of BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:261640]; also called 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS deficiency) or hyperphenylalaninemia tetrahydrobiopterin-deficient due to PTS deficiency. HPABH4A is an autosomal recessive disorder characterized by depletion of the neurotransmitters dopamine and serotonin, and clinically by severe neurological symptoms unresponsive to the classic phenylalanine-low diet.
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.
SIMILARITY: Belongs to the PTPS family.
WEB RESOURCE: Name=BIOMDB; Note=Db of mutations causing tetrahydrobiopterin deficiencies; URL="http://www.bh4.org/biodef1.html";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PTS";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PTS
Diseases sorted by gene-association score: hyperphenylalaninemia, bh4-deficient, a* (1681), hyperphenylalaninemia (62), phenylketonuria (22), breast malignant phyllodes tumor (16), dicrocoeliasis (14), mild hyperphenylalaninemia (13), hyperphenylalaninemia, bh4-deficient, b (12), breast benign neoplasm (11), thoracic benign neoplasm (11), classic phenylketonuria (11), tetrahydrobiopterin deficiency (11), tyrosinemia (8), intestinal perforation (8), vasculogenic impotence (7), dyskinetic cerebral palsy (6), plague (6), phlebotomus fever (5), andersen syndrome (5), holocarboxylase synthetase deficiency (5), miller-dieker lissencephaly syndrome (4), cranio-facial dystonia (4), meige syndrome (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.44 RPKM in Adrenal Gland
Total median expression: 436.90 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR 0.00160.000 Picture PostScript Text
3' UTR -73.60418-0.176 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007115 - 6-PTP_synth/QueD
IPR022470 - PTPS_Cys_AS
IPR022469 - PTPS_His_AS

Pfam Domains:
PF01242 - 6-pyruvoyl tetrahydropterin synthase

SCOP Domains:
55620 - Tetrahydrobiopterin biosynthesis enzymes-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3I2B - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q03393
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003874 6-pyruvoyltetrahydropterin synthase activity
GO:0005515 protein binding
GO:0016829 lyase activity
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding

Biological Process:
GO:0006520 cellular amino acid metabolic process
GO:0006729 tetrahydrobiopterin biosynthetic process
GO:0007417 central nervous system development
GO:0051186 cofactor metabolic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  LF208478 - JP 2014500723-A/15981: Polycomb-Associated Non-Coding RNAs.
BC018029 - Homo sapiens 6-pyruvoyltetrahydropterin synthase, mRNA (cDNA clone MGC:26099 IMAGE:4819386), complete cds.
D17400 - Homo sapiens PTPS mRNA for 6-pyruvoyl-tetrahydropterin synthase, complete cds.
AK310768 - Homo sapiens cDNA, FLJ17810.
BC009686 - Homo sapiens 6-pyruvoyltetrahydropterin synthase, mRNA (cDNA clone MGC:9027 IMAGE:3901665), complete cds.
AK307133 - Homo sapiens cDNA, FLJ97081.
JD139975 - Sequence 120999 from Patent EP1572962.
JD063969 - Sequence 44993 from Patent EP1572962.
M97655 - Human 6-pyruvoyltetrahydropterin synthase (PTS) mRNA, complete cds.
AM392676 - Synthetic construct Homo sapiens clone IMAGE:100002110 for hypothetical protein (PTS gene).
AM393300 - Synthetic construct Homo sapiens clone IMAGE:100002111 for hypothetical protein (PTS gene).
AM393668 - Synthetic construct Homo sapiens clone IMAGE:100002112 for hypothetical protein (PTS gene).
DQ894133 - Synthetic construct Homo sapiens clone IMAGE:100008593; FLH168027.01L; RZPDo839B0491D 6-pyruvoyltetrahydropterin synthase (PTS) gene, encodes complete protein.
KJ897426 - Synthetic construct Homo sapiens clone ccsbBroadEn_06820 PTS gene, encodes complete protein.
KJ897427 - Synthetic construct Homo sapiens clone ccsbBroadEn_06821 PTS gene, encodes complete protein.
KR709470 - Synthetic construct Homo sapiens clone CCSBHm_00002488 PTS (PTS) mRNA, encodes complete protein.
KR709471 - Synthetic construct Homo sapiens clone CCSBHm_00002495 PTS (PTS) mRNA, encodes complete protein.
KR709472 - Synthetic construct Homo sapiens clone CCSBHm_00002505 PTS (PTS) mRNA, encodes complete protein.
KR709473 - Synthetic construct Homo sapiens clone CCSBHm_00002520 PTS (PTS) mRNA, encodes complete protein.
DQ890961 - Synthetic construct clone IMAGE:100003591; FLH168031.01X; RZPDo839B0492D 6-pyruvoyltetrahydropterin synthase (PTS) gene, encodes complete protein.
JD294692 - Sequence 275716 from Patent EP1572962.
MA444055 - JP 2018138019-A/15981: Polycomb-Associated Non-Coding RNAs.
MH373432 - Homo sapiens pop variant Case 1 truncated 6-pyruvoyltetrahydropterin synthase (PTPS) mRNA, complete cds.
MH373433 - Homo sapiens pop variant Case 2 truncated 6-pyruvoyltetrahydropterin synthase (PTPS) mRNA, complete cds.
MH373434 - Homo sapiens pop variant Case 3 truncated 6-pyruvoyltetrahydropterin synthase (PTPS) mRNA, complete cds.
MH373435 - Homo sapiens pop variant Case 4 truncated 6-pyruvoyltetrahydropterin synthase (PTPS) mRNA, complete cds.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5663 - tetrahydrobiopterin de novo biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q03393 (Reactome details) participates in the following event(s):

R-HSA-1475422 PTPS is phosphorylated by cGMP-dependant protein kinase II
R-HSA-1474184 DHNTP is dephosphorylated by PTPS to PTHP
R-HSA-1474151 Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
R-HSA-8978934 Metabolism of cofactors
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B0YJ87, ENST00000280362.1, ENST00000280362.2, ENST00000280362.3, ENST00000280362.4, ENST00000280362.5, ENST00000280362.6, ENST00000280362.7, NM_000317, PTPS_HUMAN, Q03393, Q8WVG8, uc317jtt.1, uc317jtt.2
UCSC ID: ENST00000280362.8_4
RefSeq Accession: NM_000317.3
Protein: Q03393 (aka PTPS_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.