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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PTS Gene

protein-coding   GIFtS: 67
GCID: GC11P112097

6-Pyruvoyltetrahydropterin Synthase

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
6-Pyruvoyltetrahydropterin Synthase1 2
PTPS2 3
PTP Synthase2 3
6-Pyruvoyl Tetrahydrobiopterin Synthase2
EC 4.2.3.123

External Ids:    HGNC: 96891   Entrez Gene: 58052   Ensembl: ENSG000001507877   OMIM: 6127195   UniProtKB: Q033933   

Export aliases for PTS gene to outside databases

Previous GC identifers: GC11P114450 GC11P113609 GC11P112130 GC11P111634 GC11P111602 GC11P108022


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and tetrahydrobiopterin deficiency, and among its related super-pathways are Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation and Metabolic pathways. GO annotations related to this gene include 6-pyruvoyltetrahydropterin synthase activity and protein homodimerization activity.

UniProtKB/Swiss-Prot: PTPS_HUMAN, Q03393
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

Gene Wiki entry for PTS Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PTS gene promoter:
         STAT1   AP-1   STAT4   ATF-2   STAT1beta   STAT5A   STAT1alpha   STAT2   STAT3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPTS promoter sequence
   Search SABiosciences Chromatin IP Primers for PTS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PTS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q22.3   Ensembl cytogenetic band:  11q23.1   HGNC cytogenetic band: 11q22.3

PTS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PTS gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P112097:  view genomic region     (about GC identifiers)

Start:
112,097,088 bp from pter      End:
112,140,678 bp from pter
Size:
43,591 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PTPS_HUMAN, Q03393 (See protein sequence)
Recommended Name: 6-pyruvoyl tetrahydrobiopterin synthase  
Size: 145 amino acids; 16386 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: 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
1 PDB 3D structure from and Proteopedia for PTS:
3I2B (3D)    
Secondary accessions: B0YJ87 Q8WVG8

Explore the universe of human proteins at neXtProt for PTS: NX_Q03393

Explore proteomics data for PTS at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation of Ser-19 is required for maximal enzyme activity
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q03393

  • PTS Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PTS Protein Expression
    REFSEQ proteins: NP_000308.1  
    ENSEMBL proteins: 
     ENSP00000280362   ENSP00000435895   ENSP00000433469   ENSP00000431750   ENSP00000434688  
    Reactome Protein details: Q03393
    Human Recombinant Protein Products for PTS: 
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    Novus Biologicals PTS Proteins
    Novus Biologicals PTS Lysates
    Sino Biological Recombinant Protein for PTS
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for PTS
    Cloud-Clone Corp. Proteins for PTS 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005829cytosol TAS--

    PTS for ontologies           About GeneDecksing



    PTS Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for PTS 

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    Cloud-Clone Corp. ELISAs for PTS 
    Cloud-Clone Corp. CLIAs for PTS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR022469 PTPS_His_AS
     IPR007115 6-PTP_synth/QueD
     IPR022470 PTPS_Cys_AS

    Graphical View of Domain Structure for InterPro Entry Q03393

    ProtoNet protein and cluster: Q03393

    1 Blocks protein domain: IPB007116 6-pyruvoyl tetrahydropterin synthase

    UniProtKB/Swiss-Prot: PTPS_HUMAN, Q03393
    Similarity: Belongs to the PTPS family


    PTS for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PTPS_HUMAN, Q03393
    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
    Biophysicochemical properties: Kinetic parameters: KM=8.1 uM for 7,8-dihydroneopterin triphosphate; Vmax=120
    nmol/min/mg enzyme;

         Genatlas biochemistry entry for PTS:
    6-pyruvoyl-tetrahydrobiopterin synthase,catalyzing the second step of tetrahydrobiopterin (BH4) synthesis

         Enzyme Number (IUBMB): EC 4.2.3.121

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038746-pyruvoyltetrahydropterin synthase activity TAS--
    GO:0005515protein binding ----
    GO:0042802identical protein binding IPI16169070
    GO:0042803protein homodimerization activity IEA--
    GO:0046872metal ion binding IEA--
         
    PTS for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pts):
     behavior/neurological  cardiovascular system  digestive/alimentary  endocrine/exocrine gland  growth/size 
     homeostasis/metabolism  integument  mortality/aging  muscle  nervous system 
     pigmentation  reproductive system 

    PTS for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PTS: Ptstm1Thny Ptstm1Ich

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PTS 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PTS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PTS 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PTS 

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate PTS:
    hsa-miR-656
    SwitchGear 3'UTR luciferase reporter plasmidPTS 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTS


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PTS About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism of nitric oxide
    Metabolism of nitric oxide0.59
    tetrahydrobiopterin biosynthesis II0.30
    Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation0.59
    tetrahydrobiopterin biosynthesis I0.30
    eNOS activation and regulation0.59
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Folate biosynthesis
    Folate biosynthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for PTS
        tetrahydrobiopterin biosynthesis I
    tetrahydrobiopterin biosynthesis II


    4        Reactome Pathways for PTS
        eNOS activation and regulation
    Metabolism of nitric oxide
    Metabolism
    Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation


    2         Kegg Pathways  (Kegg details for PTS):
        Folate biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: PTPS_HUMAN, Q03393
    Pathway: Cofactor biosynthesis; tetrahydrobiopterin biosynthesis; tetrahydrobiopterin from 7,8-dihydroneopterin
    triphosphate: step 1/3


    PTS for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PTS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/24 Interacting proteins for PTS (Q033931, 2, 3 ENSP000002803624) via UniProtKB, MINT, STRING, and/or I2D (see all 24)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTSQ033931, 2EBI-712344,EBI-712344 MINT-64049 MINT-67432
    FXR2P511163, ENSP000002501134I2D: score=1 STRING: ENSP00000250113
    PRKDCP785273, ENSP000003134204I2D: score=1 STRING: ENSP00000313420
    PRKG2Q132373, ENSP000002643994I2D: score=1 STRING: ENSP00000264399
    ATMQ133153, ENSP000002786164I2D: score=1 STRING: ENSP00000278616
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006520cellular amino acid metabolic process TAS3308682
    GO:0006729tetrahydrobiopterin biosynthetic process IEA--
    GO:0007417central nervous system development TAS3308682
    GO:0044281small molecule metabolic process TAS--
    GO:0046209nitric oxide metabolic process TAS--

    PTS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PTS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PTS (PTPS)

    6 HMDB Compounds for PTS    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Amino-4-oxo-6-(1',2'-dioxoprolyl)-7,8-dihydroxypteridine2-amino-4-oxo-6-(1',2'-dioxoprolyl)-7,8-dihydroxypteridine ----
    7,8-Dihydroneopterin2-Amino-4-hydroxy-6-(D-erythro-1',2',3'-trihydroxypropyl)-7,8-dihydropteridine (see all 11)1218-98-0--
    Dihydroneopterin triphosphate2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl) dihydropteridine triphosphate (see all 5)20574-65-6--
    Dyspropterin6-(1,2-dioxopropyl)-5,6,7,8-tetrahydropterin (see all 5)89687-39-8--
    Tetrahydrobiopterin(1R,2S)-(2-Amino-3,4,5,6,7,8-hexahydro-4-oxo-6-pteridinyl)-1,2-propandiol (see all 11)17528-72-2--
    Triphosphatetriphosphate(5-) (see all 6)14127-68-5--

    1 DrugBank Compound for PTS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Biopterin-- --target--10592235

    10/69 Novoseek inferred chemical compound relationships for PTS gene (see all 69)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    6-pyruvoyltetrahydropterin 97.9 189 2154472 (4), 1734883 (4), 8307017 (4), 9222755 (3) (see all 80)
    tetrahydrobiopterin 90.4 71 1588012 (2), 10874306 (2), 12708971 (2), 9165069 (2) (see all 41)
    dihydropteridine 90.1 17 16917893 (2), 11694255 (1), 12003346 (1), 1357201 (1) (see all 12)
    tyrosine 87.4 550 15798896 (4), 11238643 (3), 15192089 (3), 11079556 (2) (see all 99)
    sepiapterin 86.8 30 2154472 (3), 2039522 (2), 16917893 (2), 12003346 (1) (see all 19)
    dihydroneopterin triphosphate 82.6 3 2406138 (1), 10024455 (1), 9165069 (1)
    phosphotyrosine 82.4 40 8428956 (1), 9788895 (1), 12482337 (1), 1736296 (1) (see all 35)
    pterin 80.7 2 11798810 (1), 11238300 (1)
    2-(oxalyl-amino)-benzoic acid 79.6 2 10702277 (1)
    pcbd 76.7 1 19491146 (1)

    Search CenterWatch for drugs/clinical trials and news about PTS / PTPS

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PTS gene: 
    NM_000317.2  

    Unigene Cluster for PTS:

    6-pyruvoyltetrahydropterin synthase
    Hs.503860  [show with all ESTs]
    Unigene Representative Sequence: BM928025
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000280362(uc001pnj.4) ENST00000528679 ENST00000525645 ENST00000531673(uc009yyo.3)
    ENST00000525803 ENST00000524931 ENST00000531175 ENST00000527428 ENST00000527635

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK307133.1 AK310768.1 BC009686.1 BC018029.1 D17400.1 M97655.1 

    9 DOTS entries:

    DT.445397  DT.40291037  DT.95161113  DT.100782844  DT.91669475  DT.120720095  DT.120720101  DT.40227341 
    DT.99977134 

    24/129 AceView cDNA sequences (see all 129):

    BU076120 BF589418 NM_000317 CF529486 BM661536 AA449964 AI272824 AA767664 
    BM509934 AU102643 BE645608 AI129612 BF515193 BQ010566 BU072135 BQ011555 
    AA099044 BQ013431 BE883847 AI167571 CA776669 BF968930 BM928025 BM853387 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for PTS (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for PTS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PTS expression in normal human tissues (normalized intensities)      PTS embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGAGATTGA
    PTS Expression
    About this image


    PTS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             brain/midbrain   
     
     Eye (Sensory Organs)
             Retina
     
     Neural Crest (Gastrulation Derivatives)
             skeleton/cranium   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Bone (Gastrulation Derivatives)
             skeleton/cranium   

    See PTS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PTS

    SOURCE GeneReport for Unigene cluster: Hs.503860
        SABiosciences Custom PCR Arrays for PTS
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTS

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PTS gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pts1 , 5 6-pyruvoyl-tetrahydropterin synthase1, 5 83.1(n)1
    82.64(a)1
      9 (27.73 cM)5
    192861  NM_011220.21  NP_035350.11 
     505216185 
    chicken
    (Gallus gallus)
    Aves PTS1 6-pyruvoyltetrahydropterin synthase 77.61(n)
    79.85(a)
      374144  XM_417928.3  XP_417928.2 
    lizard
    (Anolis carolinensis)
    Reptilia PTS6
    Uncharacterized protein
    82(a)
    1 ↔ 1
    GL343973.1(632-2594)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.98002 Xenopus laevis transcribed sequence with weak similarity more 71.55(n)    48051582 
    zebrafish
    (Danio rerio)
    Actinopterygii pts1 6-pyruvoyltetrahydropterin synthase 70.4(n)
    71.64(a)
      100073330  NM_001098767.1  NP_001092237.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta pr1 , 3 pteridine biosynthesis
    6-pyruvoyltetrahydropterin more3
    purple1
    58(a)3
    59.65(n)1
    58.65(a)1
      2 38B33
    352921  NM_165319.21  NP_724244.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ptps-11 Protein PTPS-1 60.27(n)
    56(a)
      181823  NM_001047161.1  NP_001040626.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PTS gene

    PTS for paralogs           About GeneDecksing


    5/8 Pseudogenes.org Pseudogenes for PTS (see all 8)
    PGOHUM00000235480 PGOHUM00000236043 PGOHUM00000236050 PGOHUM00000236058 PGOHUM00000236065


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/253 SNPs in PTS are shown (see all 253)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0582654
    Hyperphenylalaninemia, BH4-deficient, A (HPABH4A)4--see VAR_0582652 L F mis40--------
    VAR_0582694
    Hyperphenylalaninemia, BH4-deficient, A (HPABH4A)4--see VAR_0582692 D G mis40--------
    VAR_0582664
    Hyperphenylalaninemia, BH4-deficient, A (HPABH4A)4--see VAR_0582662 V M mis40--------
    VAR_0080414
    Hyperphenylalaninemia, BH4-deficient, A (HPABH4A)4--see VAR_0080412 D G mis40--------
    VAR_0068254
    Hyperphenylalaninemia, BH4-deficient, A (HPABH4A)4--see VAR_0068252 V D mis40--------
    VAR_0068304
    Hyperphenylalaninemia, BH4-deficient, A (HPABH4A)4--see VAR_0068302 T M mis40--------
    VAR_0068294
    Hyperphenylalaninemia, BH4-deficient, A (HPABH4A)4--see VAR_0068292 F V mis40--------
    VAR_0068324
    Hyperphenylalaninemia, BH4-deficient, A (HPABH4A)4--see VAR_0068322 K E mis40--------
    VAR_0068164
    Hyperphenylalaninemia, BH4-deficient, A (HPABH4A)4--see VAR_0068162 R C mis40--------
    VAR_0068174
    Hyperphenylalaninemia, BH4-deficient, A (HPABH4A)4--see VAR_0068172 R G mis40--------

    HapMap Linkage Disequilibrium report for PTS (112097088 - 112140678 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PTS: --

    Human Gene Mutation Database (HGMD): PTS

    Locus Specific Mutation Databases (LSDB): PTS
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PTS
    DNA2.0 Custom Variant and Variant Library Synthesis for PTS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612719   
    OMIM disorders: 261640  
    UniProtKB/Swiss-Prot: PTPS_HUMAN, Q03393
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/49 diseases for PTS (see all 49):    About MalaCards
    hyperphenylalaninemia    tetrahydrobiopterin deficiency    6-pyruvoyltetrahydropterin synthase deficiency    intestinal perforation
    hyperphenylalaninemia, bh4-deficient, a    gtp cyclohydrolase i deficiency    dihydropteridine reductase deficiency    mild hyperphenylalaninemia
    japanese encephalitis    dopa-responsive dystonia    phenylketonuria    plague
    tyrosinemia    hemophilia    homocystinuria    pick's disease
    metabolic disorders    angiomyolipoma    neurologic diseases    polycythemia vera

    2 diseases from the University of Copenhagen DISEASES database for PTS:
    Phenylketonuria     Diabetes mellitus

    PTS for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/32 Novoseek inferred disease relationships for PTS gene (see all 32)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperphenylalaninemia 91.9 43 10874306 (2), 9222757 (2), 10220141 (2), 18505119 (2) (see all 26)
    gtp cyclohydrolase i deficiency 82 2 16275037 (1), 8830181 (1)
    phenylketonuria classical 75 2 8404969 (1)
    phenylketonurias 48 7 8707300 (2), 10830032 (1), 8404969 (1), 15984017 (1)
    tyrosinemias 34.6 1 10830032 (1)
    mental retardation 25.9 5 16850690 (1), 16161143 (1), 9648848 (1)
    enzyme deficiency 24.5 1 12003346 (1)
    picks disease 19.7 1 9485060 (1)
    homocystinuria 19.4 1 10830032 (1)
    cancer 18.2 22 18259840 (3), 11470605 (1), 18298793 (1), 15155950 (1) (see all 19)

    Genatlas disease: PTS
    hyperphenylalaninemia (phenylketonuria variant) with dystonia and progressive neurological degeneration
    (tetrahydrobiopterin BH4 synthesis deficiency)

    Genetic Association Database (GAD): PTS
    Human Genome Epidemiology (HuGE) Navigator: PTS (38 documents)

    Export disorders for PTS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PTS gene, integrated from 9 sources (see all 497):
    (articles sorted by number of sources associating them with PTS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS. (PubMed id 10874306)2, 4, 9 Blau N....Thony B. (2000)
    2. Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. (PubMed id 9450907)1, 2, 9 Liu T.-T.... Yu W.-M. (1998)
    3. Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II. (PubMed id 10531334)1, 2, 9 Scherer-Oppliger T.... Thoeny B. (1999)
    4. Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families. (PubMed id 9222757)1, 2, 9 Oppliger T.... Blau N. (1997)
    5. Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl- tetrahydropterin synthase. (PubMed id 8178819)1, 2, 9 Thoeny B.... Heizmann C.W. (1994)
    6. Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia. (PubMed id 10220141)1, 2, 9 Scherer-Oppliger T.... Thoeny B. (1999)
    7. Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency. (PubMed id 8707300)1, 2, 9 Liu T.T. and Hsiao K.J. (1996)
    8. Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase. (PubMed id 8841415)1, 2, 9 Kluge C.... Thoeny B. (1996)
    9. Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme. (PubMed id 1282802)1, 2, 9 Thoeny B.... Heizmann C.W. (1992)
    10. [Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation] (PubMed id 17407085)1, 4, 9 Ye J....Gu X.F. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5805 HGNC: 9689 AceView: PTS Ensembl:ENSG00000150787 euGenes: HUgn5805
    ECgene: PTS Kegg: 5805 H-InvDB: PTS

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PTS Pharmacogenomics, SNPs, Pathways
    BIOMDBhttp://www.bh4.org/biodef1.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PTS

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PTS gene:
    Search GeneIP for patents involving PTS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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     Regulatory tfbs in PTS promoter
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