Homo sapiens Gene: PTS
Summary
InnateDB Gene IDBG-71519.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PTS
Gene Name 6-pyruvoyltetrahydropterin synthase
Synonyms PTPS
Species Homo sapiens
Ensembl Gene ENSG00000150787
Encoded Proteins
6-pyruvoyltetrahydropterin synthase
6-pyruvoyltetrahydropterin synthase
6-pyruvoyltetrahydropterin synthase
6-pyruvoyltetrahydropterin synthase
6-pyruvoyltetrahydropterin synthase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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), 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:112226365-112269955
Strand Forward strand
Band q23.1
Transcripts
ENST00000280362 ENSP00000280362
ENST00000528679 ENSP00000435895
ENST00000525645
ENST00000531673 ENSP00000433469
ENST00000525803 ENSP00000431750
ENST00000524931 ENSP00000434688
ENST00000531175
ENST00000527428
ENST00000527635
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
Cellular Component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation pathway
eNOS activation and regulation pathway
Metabolism of nitric oxide pathway
Metabolism pathway
KEGG
Folate biosynthesis pathway
INOH
Folate metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_000317
HUGO
OMIM
CCDS CCDS8359
HPRD 11840
IMGT
EMBL
GenPept
RNA Seq Atlas