PTS Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | PTS |
| Official Name | 6-pyruvoyltetrahydropterin synthase [Source:HGNC Symbol;Acc:HGNC:9689] |
| Ensembl ID | ENSG00000150787 |
| Bio databases IDs | |
| Aliases | 6-pyruvoyltetrahydropterin synthase |
| Synonyms | 6-PTPS, 6-pyruvoyl-tetrahydropterin synthase, PTPS |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PTS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- TFold
- 6-pyruvoyltetrahydropterin synthase
- enzyme
- protein binding
- identical protein binding
- 6-pyruvoyl tetrahydropterin synthase
Pathways
Biological processes and signaling networks where the PTS gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
- Waldenström macroglobulinemia
- lung adenocarcinoma
- lung adenocarcinoma formation
- growth failure
- organismal death
- hyperphenylalaninemia
- dystonia
- GTP cyclohydrolase I deficiency
role in cell
- proliferation
- activation in
- cell viability
- apoptosis
- binding in
- growth
- nitrosylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PTS gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- central nervous system development
- tetrahydrobiopterin biosynthetic process
- cellular amino acid metabolic process
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- mitochondrion
- cytosol
Molecular Function
What the gene product does at the molecular level
- 6-pyruvoyltetrahydropterin synthase activity
- identical protein binding
- protein binding
- metal ion binding