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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PTS Gene

protein-coding GIFtS: 65
GCID: GC11P112097

6-pyruvoyltetrahydropterin synthase

Explore 51 diseases affiliated with
PTS via

MalaCards

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
6-Pyruvoyltetrahydropterin Synthase¹ ²
PTPS¹ ² 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:

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)

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

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 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 plasmid: PTS 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 ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

Phosphorylation of Ser-19 is required for maximal enzyme activity¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q03393

PTS Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000308.1

ENSEMBL proteins:

ENSP00000280362 ENSP00000435895 ENSP00000433469 ENSP00000431750 ENSP00000434688

Reactome Protein details: Q03393
Human Recombinant Protein Products:

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	Novus Biologicals PTS Proteins Novus Biologicals PTS Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for PTS
	Uscn Proteins for PTS

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	--
GO:0005739	mitochondrion	IDA	--
GO:0005829	cytosol	TAS	--

PTS for ontologies About GeneDecksing

PTS Antibody Products:

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	ThermoFisher Antibody for PTS

Assay Products for PTS:

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	GenScript Custom Assay Services for PTS
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for PTS

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PTS for domains About GeneDecksing

3 InterPro domains/families:

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 family: IPB007116 6-pyruvoyl tetrahydropterin synthase

UniProtKB/Swiss-Prot: PTPS_HUMAN, Q03393

Similarity: Belongs to the PTPS family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

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

miRNA Products:		OriGene 3'-UTR Clone: PTS Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PTS
		1 QIAGEN miScript miRNA Assays for microRNA that regulate PTS:
		hsa-miR-656
		SwitchGear 3'UTR luciferase reporter plasmid: PTS 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PTS (see all 7) OriGene shRNA RFP: PTS OriGene siRNA: PTS
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PTS

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for PTS

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PTS (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PTS OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: PTS (NM_000317)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PTS
		Search LifeMap BioReagents cell lines for PTS

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTS

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003874	6-pyruvoyltetrahydropterin synthase activity	TAS	--
GO:0005515	protein binding	--	--
GO:0042802	identical protein binding	IPI	16189514
GO:0042803	protein homodimerization activity	IEA	--
GO:0046872	metal ion binding	IEA	--

PTS for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for PTS: Pts^tm1Thny Pts^tm1Ich
     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

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Metabolism of nitric oxide

eNOS activation and regulation	1.00	tetrahydrobiopterin biosynthesis II	0.18
Metabolism of nitric oxide	1.00	tetrahydrobiopterin biosynthesis I	0.18
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation	0.59

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Folate biosynthesis

Folate biosynthesis

1.00

Pathway sources
See GeneCards unified pathways
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 Central^TM 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 (Q03393^{1, 2, 3} ENSP00000280362⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 24)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PTS	Q03393¹^,²	EBI-712344,EBI-712344 MINT-64049 MINT-67432
FXR2	P51116³, ENSP00000250113⁴	I2D: score=1 STRING: ENSP00000250113
PRKDC	P78527³, ENSP00000313420⁴	I2D: score=1 STRING: ENSP00000313420
PRKG2	Q13237³, ENSP00000264399⁴	I2D: score=1 STRING: ENSP00000264399
ATM	Q13315³, ENSP00000278616⁴	I2D: 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 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	--

PTS for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

6 HMDB Compounds for PTS About this table

Compound	Synonyms	CAS #	PubMed Ids
2-Amino-4-oxo-6-(1',2'-dioxoprolyl)-7,8-dihydroxypteridine	2-amino-4-oxo-6-(1',2'-dioxoprolyl)-7,8-dihydroxypteridine	--	--
7,8-Dihydroneopterin	2-Amino-4-hydroxy-6-(D-erythro-1',2',3'-trihydroxypropyl)-7,8-dihydropteridine (see all 11)	1218-98-0	--
Dihydroneopterin triphosphate	2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl) dihydropteridine triphosphate (see all 5)	20574-65-6	--
Dyspropterin	6-(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	--
Triphosphate	triphosphate(5-) (see all 6)	14127-68-5	--

1 DrugBank Compound for PTS About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Biopterin	--	--	target	--	10592235

10/69 Novoseek 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 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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, 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

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PTS
		1 QIAGEN miScript miRNA Assays for microRNA that regulate PTS:
		hsa-miR-656
		SwitchGear 3'UTR luciferase reporter plasmid: PTS 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PTS (see all 7) OriGene shRNA RFP: PTS OriGene siRNA: PTS
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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PTS (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PTS OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: PTS (NM_000317)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PTS

Additional cDNA 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):

BQ181541 CA776669 BM503786 BF515193 BF589418 BF968930 AW292165 BM820785

AI272824 AA099044 BM928025 BM853387 BE645608 AI167571 BE883847 BM509934

BU076120 AI129612 AA449964 BQ013431 BU072135 BM661536 AA767664 BQ011555

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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAGAGATTGA

About this image
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

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PTS Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PTS

In Situ
Assay Products:

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 7/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Pts^{1 , 5}	6-pyruvoyl-tetrahydropterin synthase^{1, 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	--	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	pr^{1 , 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, UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894279^1,2	C	pathogenic	125344263(+)	`CTGGGA/GCAACC`	2	D G	mis¹		0	--	--	--	--
rs104894280^1,2	C,	pathogenic	125344522(+)	`ATATGA/GATGTG`	2	N D	mis¹		0	--	--	--	--
rs104894276^1,2	C,	pathogenic	125344549(+)	`TGCAGC/TCCCTT`	2	P S	mis¹		0	--	--	--	--
rs104894277^1,2	C	pathogenic	125347517(+)	`TAGTTA/GTGGTG`	2	M V	mis¹		0	--	--	--	--
rs104894275^1,2	C	pathogenic	125349062(+)	`GCACAA/GTTATA`	2	N S	mis¹		0	--	--	--	--
rs104894278^1,2	C	pathogenic	125349078(+)	`ATCCAA/GATGGC`	2	N D	mis¹		0	--	--	--	--
rs104894273^1,2	C	pathogenic	125351209(+)	`CCACCA/GATTGT`	2	Q R	mis¹		0	--	--	--	--
rs104894274^1,2	C	pathogenic	125351237(+)	`TGTCCC/TGCCGC`	2	R C	mis¹		0	--	--	--	--
rs113583781^1,2		--	108020877(+)	`ACAAAC/TCTGAT`	1	--	us2k¹		1		CSA	2
rs7945257^1,2	C,	--	108021242(+)	`tttgcA/Catcta`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for PTS (112097088 - 112140678 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
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

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PTS for disorders           About GeneDecksing

OMIM gene information: 612719
OMIM disorders: 261640
UniProtKB/Swiss-Prot: PTPS_HUMAN, Q03393

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

20/51 diseases for PTS (see all 51): About MalaCards

gtp cyclohydrolase i deficiency hyperphenylalaninemia 6-pyruvoyltetrahydropterin synthase deficiency dopa-responsive dystonia

dihydropteridine reductase deficiency diffuse large b-cell lymphoma b-cell lymphomas intestinal perforation

tyrosinemia type 2 diabetes mellitus phenylketonuria tetrahydrobiopterin deficiency

polycythemia vera japanese encephalitis homocystinuria diabetes mellitus

pick's disease insulin resistance metabolic disorders oral squamous cell carcinoma

1 disease from the University of Copenhagen DISEASES database for PTS:

Phenylketonuria

10/32 Novoseek 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 492):
(articles sorted by number of sources associating them with PTS)

Utopia: connect your pdf to the dynamic
world of online information

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)
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)
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families. (PubMed id 9222757)^{1, 2, 9} Oppliger T.... Blau N. (1997)
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)
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)
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)
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)
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)
Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes. (PubMed id 9222755)^{1, 2, 9} Thoeny B. and Blau N. (1997)
Structural and functional consequences of mutations in 6- pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity. (PubMed id 7493990)^{1, 2, 9} Oppliger T.... Blau N. (1995)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM 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

Name	Description
PharmGKB entry for PTS	Pharmacogenomics, SNPs, Pathways
BIOMDB	http://www.bh4.org/biodef1.html
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PTS

Intellectual Property for PTS gene
(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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ENZYME DEFICIENCY
Gastric Cancer
Neurodegenerative Diseases
Melanoma
Hyperphenylalaninemia
Phenylketonurias
Insulin Resistance
Hemophilia A
Colorectal Cancer
Tyrosinemias
Inflammation
Picks Disease
GTP CYCLOHYDROLASE I DEFICIENCY
Homocystinuria
OBESITY
Carcinoma
Carcinoma Squamous Cell
immunodeficiency
Alzheimers Disease
Atherosclerosis
Diabetes Mellitus
Breast Cancer
Cardiovascular Diseases
Mental Retardation
Tumors
Phenylketonuria Classical
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metabolic disorder
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