• Gene id: 5805

Gene Summary

• Gene Symbol: PTS   Gene   UCSC   Ensembl
• Aliases: PTPS
• Gene name: 6-pyruvoyltetrahydropterin synthase
• Alternate names: 6-pyruvoyl tetrahydrobiopterin synthase, PTP synthase,
• Gene location: 11q23.1 (112226427: 112233972)     Exons: 6     NC_000011.10
• Gene summary(Entrez): 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)
• OMIM: 612719

Protein Summary

• Protein general information: Q03393  
  • Name: 6 pyruvoyl tetrahydrobiopterin synthase (PTP synthase) (PTPS) (EC 4.2.3.12)
  • Length: 145  
  • Mass: 16386
• Sequence:

  MSTEGGGRRCQAQVSRRISFSASHRLYSKFLSDEENLKLFGKCNNPNGHGHNYKVVVTVHGEIDPATGMVMNLAD
  LKKYMEEAIMQPLDHKNLDMDVPYFADVVSTTENVAVYIWDNLQKVLPVGVLYKVKVYETDNNIVVYKGE

• Structural information:
  • Interpro: IPR007115  IPR038418  IPR022470  IPR022469  
  • Prosite: PS00987 PS00988
  • PDB: 3I2B
  • PDBsum: 3I2B
  • STRING: ENSP00000280362
• Other Databases: GeneCards:  PTS  Malacards:  PTS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0003874	6-pyruvoyltetrahydropterin synthase activity	IEA	molecular function
GO:0006729	tetrahydrobiopterin biosynthetic process	IEA	biological process
GO:0006729	tetrahydrobiopterin biosynthetic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0003874	6-pyruvoyltetrahydropterin synthase activity	TAS	molecular function
GO:0006520	cellular amino acid metabolic process	TAS	biological process
GO:0006729	tetrahydrobiopterin biosynthetic process	TAS	biological process
GO:0007417	central nervous system development	TAS	biological process
GO:0003874	6-pyruvoyltetrahydropterin synthase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003874	6-pyruvoyltetrahydropterin synthase activity	IEA	molecular function
GO:0003874	6-pyruvoyltetrahydropterin synthase activity	IEA	molecular function
GO:0006729	tetrahydrobiopterin biosynthetic process	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0006729	tetrahydrobiopterin biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00790	Folate biosynthesis

Diseases

Associated diseases	References
Phenylketonuria	KEGG:H00167
Phenylketonuria	KEGG:H00167
Phenylketonuria	PMID:8178819
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881