InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PTS

Summary

InnateDB Protein

IDBP-71521.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PTS

Protein Name

6-pyruvoyltetrahydropterin synthase

Synonyms

PTPS;

Species

Homo sapiens

Ensembl Protein

ENSP00000280362

InnateDB Gene

IDBG-71519 (PTS)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:1282802}.

Subcellular Localization

Disease Associations

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. {ECO:0000269PubMed:10220141, ECO:0000269PubMed:10585341, ECO:0000269PubMed:10874306, ECO:0000269PubMed:11388593, ECO:0000269PubMed:7698774, ECO:0000269PubMed:8178819, ECO:0000269PubMed:8707300, ECO:0000269PubMed:9159737, ECO:0000269PubMed:9222757, ECO:0000269PubMed:9450907}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	12 [view]
Protein-Protein	12 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003874	6-pyruvoyltetrahydropterin synthase activity
GO:0005515	protein binding
GO:0042802	identical protein binding
GO:0042803	protein homodimerization activity
GO:0046872	metal ion binding

Biological Process

GO:0006520	cellular amino acid metabolic process
GO:0006729	tetrahydrobiopterin biosynthetic process
GO:0007417	central nervous system development
GO:0044281	small molecule metabolic process
GO:0046209	nitric oxide metabolic process
GO:0050999	regulation of nitric-oxide synthase activity