Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5805
Gene name	6-pyruvoyltetrahydropterin synthase
Gene symbol	PTS
Synonyms (NCBI Gene)	PTPS
Chromosome	11
Chromosome location	11q23.1
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)

Show/Hide all (39)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894273	G>A	Pathogenic	Missense variant, coding sequence variant
rs104894274	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104894275	A>G	Pathogenic	Missense variant, coding sequence variant
rs104894276	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894277	G>A,C	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs104894278	A>G	Pathogenic	Missense variant, coding sequence variant
rs104894279	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104894280	G>A	Pathogenic	Missense variant, coding sequence variant
rs145882709	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs150726932	G>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200712908	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs370340361	C>T	Pathogenic	Missense variant, coding sequence variant
rs747260038	TTTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs750229518	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs761285716	A>G	Pathogenic	Missense variant, coding sequence variant
rs765406631	C>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs770387277	GTG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs775426269	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs776543880	G>A,C	Likely-pathogenic	Splice acceptor variant
rs780332520	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs781197929	T>A,C,G	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs794726656	GTTCTTCCTGTAGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs794726657	A>T	Pathogenic	Intron variant
rs866922524	->GG	Likely-pathogenic	Splice donor variant, coding sequence variant
rs927103678	G>A	Conflicting-interpretations-of-pathogenicity	Splice donor variant
rs1057517810	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517811	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1167104933	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1230781262	C>G,T	Pathogenic-likely-pathogenic	Intron variant
rs1256819927	G>T	Likely-pathogenic	Splice donor variant
rs1480995114	A>G	Pathogenic	Intron variant
rs1555197885	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555198165	AAAGCACTGATAAAGTTTTTTTTTGTTGTTGTTGTTTTTTTTTTTGAGATGGAGT>-	Pathogenic	Intron variant
rs1555198233	A>G	Likely-pathogenic	Splice acceptor variant
rs1555198263	TC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555198451	G>T	Likely-pathogenic	Splice acceptor variant
rs1555198462	G>C	Likely-pathogenic	Splice donor variant
rs1555198483	A>G	Likely-pathogenic	Splice acceptor variant
rs1555198494	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (43)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024591	hsa-miR-215-5p	Microarray	19074876
MIRT026112	hsa-miR-192-5p	Microarray	19074876
MIRT049542	hsa-miR-92a-3p	CLASH	23622248
MIRT1276703	hsa-miR-3616-5p	CLIP-seq
MIRT1276704	hsa-miR-3646	CLIP-seq
MIRT1276705	hsa-miR-3647-3p	CLIP-seq
MIRT1276706	hsa-miR-3647-5p	CLIP-seq
MIRT1276707	hsa-miR-3662	CLIP-seq
MIRT1276708	hsa-miR-4775	CLIP-seq
MIRT1276709	hsa-miR-4795-5p	CLIP-seq
MIRT1276710	hsa-miR-573	CLIP-seq
MIRT1276711	hsa-miR-889	CLIP-seq
MIRT2081380	hsa-miR-1265	CLIP-seq
MIRT2081381	hsa-miR-192	CLIP-seq
MIRT2081382	hsa-miR-215	CLIP-seq
MIRT2081383	hsa-miR-224	CLIP-seq
MIRT2081384	hsa-miR-3171	CLIP-seq
MIRT2081385	hsa-miR-3177-5p	CLIP-seq
MIRT2081386	hsa-miR-3614-5p	CLIP-seq
MIRT2081387	hsa-miR-3622a-5p	CLIP-seq
MIRT2081388	hsa-miR-4423-3p	CLIP-seq
MIRT2081389	hsa-miR-4452	CLIP-seq
MIRT2081390	hsa-miR-4705	CLIP-seq
MIRT2081391	hsa-miR-508-5p	CLIP-seq
MIRT2081392	hsa-miR-520a-5p	CLIP-seq
MIRT2081393	hsa-miR-525-5p	CLIP-seq
MIRT2081394	hsa-miR-590-3p	CLIP-seq
MIRT2081395	hsa-miR-656	CLIP-seq
MIRT2081381	hsa-miR-192	CLIP-seq
MIRT2307427	hsa-miR-19a	CLIP-seq
MIRT2307428	hsa-miR-19b	CLIP-seq
MIRT2307429	hsa-miR-2113	CLIP-seq
MIRT2081382	hsa-miR-215	CLIP-seq
MIRT2307430	hsa-miR-3121-3p	CLIP-seq
MIRT2081385	hsa-miR-3177-5p	CLIP-seq
MIRT2081387	hsa-miR-3622a-5p	CLIP-seq
MIRT2307431	hsa-miR-378g	CLIP-seq
MIRT2081388	hsa-miR-4423-3p	CLIP-seq
MIRT2081390	hsa-miR-4705	CLIP-seq
MIRT2081391	hsa-miR-508-5p	CLIP-seq
MIRT2081392	hsa-miR-520a-5p	CLIP-seq
MIRT2081393	hsa-miR-525-5p	CLIP-seq
MIRT1276711	hsa-miR-889	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003874	Function	6-pyruvoyltetrahydropterin synthase activity	IEA
GO:0003874	Function	6-pyruvoyltetrahydropterin synthase activity	TAS	3308682
GO:0005515	Function	Protein binding	IPI	19060904, 25416956, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IDA
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006520	Process	Amino acid metabolic process	TAS	3308682
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	IEA
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	IEA
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	TAS	3308682
GO:0007417	Process	Central nervous system development	TAS	3308682
GO:0016829	Function	Lyase activity	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	16169070, 16189514, 21516116, 24599843, 25416956, 25502805, 25910212, 31515488, 32296183
GO:0046146	Process	Tetrahydrobiopterin metabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
612719	9689	ENSG00000150787

Q03393

Protein name

6-pyruvoyl tetrahydrobiopterin synthase (PTP synthase) (PTPS) (EC 4.2.3.12)

Protein 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.

PDB

3I2B

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01242	PTPS	13 → 145	6-pyruvoyl tetrahydropterin synthase	Domain

Sequence

MSTEGGGRRCQAQVSRRISFSASHRLYSKFLSDEENLKLFGKCNNPNGHGHNYKVVVTVH
GEIDPATGMVMNLADLKKYMEEAIMQPLDHKNLDMDVPYFADVVSTTENVAVYIWDNLQK
VLPVGVLYKVKVYETDNNIVVYKGE

Sequence length

145

Interactions

View interactions

	KEGG		Reactome
	Folate biosynthesis Metabolic pathways Biosynthesis of cofactors		Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation

317

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	Likely pathogenic; Pathogenic	rs2135407114, rs2135407146, rs1328320990, rs2135409169, rs141163668, rs765777664, rs1399026048, rs1859972447, rs1317230624, rs759363496, rs2135410340, rs1859971691, rs1367077861, rs199603175, rs2135408292 View all (64 more)	RCV001378214 RCV001378592 RCV001379602 RCV001378238 RCV001379032 RCV001386720 RCV001389733 RCV001386869 RCV001754543 RCV001989605 RCV001936011 RCV002007379 RCV001994721 RCV002000120 RCV001976797 RCV001958661 RCV001949408 RCV001972791 RCV001881243 RCV000000505 RCV000778305 RCV000000508 RCV000000509 RCV000000510 RCV000000513 RCV000000514 RCV002226800 RCV002272739 RCV002308167 RCV003062455 RCV003037430 RCV003068334 RCV003110522 RCV003108869 RCV002876898 RCV002889372 RCV002886582 RCV003055659 RCV003131275 RCV003471750 RCV003471751 RCV003463402 RCV003471752 RCV003496201 RCV003496658 RCV003598970 RCV003598665 RCV003992136 RCV004574652 RCV004574653 RCV004574654 RCV000410240 RCV001206459 RCV001261646 RCV000984305 RCV000545224 RCV000546150 RCV000669121 RCV000666747 RCV000672251 RCV000669844 RCV000669353 RCV000667396 RCV000672206 RCV000671251 RCV000669778 RCV000666591 RCV000668893 RCV000670243 RCV000667725 RCV000665717 RCV000667242 RCV000669373 RCV000673112 RCV000674555 RCV000668151 RCV000668809 RCV000666677 RCV000666163 RCV000672138 RCV000671217 RCV000791681 RCV001004344 RCV001066231 RCV001068909 RCV001210738 RCV001261645 RCV001261647
GTP cyclohydrolase I deficiency with hyperphenylalaninemia	Pathogenic; Likely pathogenic	rs104894276, rs1449216377	RCV003982818 RCV003983773
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	Pathogenic	rs104894276	RCV003153291
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency	Likely pathogenic; Pathogenic	rs104894274, rs794726656, rs104894278	RCV000000506 RCV000000507 RCV000000511
Nonpapillary renal cell carcinoma	Pathogenic; Likely pathogenic	rs1256819927	RCV005930319 RCV005901497
PTS-related disorder	Pathogenic; Likely pathogenic	rs104894275, rs778932353, rs2496570703	RCV003924789 RCV003396891 RCV003900961

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs1390634111	RCV005931387
Cholangiocarcinoma	Likely benign	rs778736284	RCV005896750
Lung cancer	Likely benign	rs61900919	RCV005926276
Noonan syndrome 1	Conflicting classifications of pathogenicity	rs2496570753	RCV005861343
Ovarian serous cystadenocarcinoma	Likely benign	rs778736284	RCV005896748
Thymoma	Likely benign	rs778736284	RCV005896749
Uterine corpus endometrial carcinoma	Likely benign	rs778736284	RCV005896751

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
6 pyruvoyl tetrahydropterin synthase deficiency	Associate	19674121, 8178819, 8841415
6 pyruvoyl tetrahydropterin synthase deficiency	Inhibit	8178819
Autistic Disorder	Associate	19674121
Dystonia	Associate	36054588
Genetic Diseases Inborn	Associate	25758715
Immunologic Deficiency Syndromes	Associate	35833796
Lupus Erythematosus Systemic	Associate	31616406
Metabolic Diseases	Associate	27798097
Neoplasms	Associate	20413845, 36341348
Parkinson Disease	Inhibit	17270157
Parkinson Disease Secondary	Associate	36054588
Phenylketonurias	Associate	23942198, 24705691, 35833796, 36361642, 36382472, 37818795, 8178819, 8841415

PTS (6-pyruvoyltetrahydropterin synthase)