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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5805
Gene name Gene Name - the full gene name approved by the HGNC.	6-pyruvoyltetrahydropterin synthase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PTS
Synonyms (NCBI Gene) Gene synonyms aliases	PTPS
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q23.1
Summary Summary of gene provided in NCBI Entrez 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)

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

Protein

UniProt ID

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

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
6-pyruvoyl-tetrahydropterin synthase deficiency	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	rs370340361, rs776543880, rs1167104933, rs1555198233, rs747260038, rs104894277, rs1859972447, rs770387277, rs1555198263, rs1256819927, rs1555198462, rs104894280, rs866922524, rs1555198483, rs1555198165 View all (20 more)	N/A
Hyperphenylalaninemia	Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency	rs104894278, rs104894274, rs794726656	N/A
GTP Cyclohydrolase I Deficiency	GTP cyclohydrolase I deficiency with hyperphenylalaninemia	rs104894276	N/A

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)