Tbio GCH1 GTP cyclohydrolase 1

Protein Summary

Description

Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown. This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• P30793
• Q6FHY7
• Q9Y4I8

Gene Name

• GCH1

Ensembl ID

• ENST00000395514
• ENSP00000378890
• ENSG00000131979
• ENST00000491895
• ENSP00000419045
• ENST00000536224
• ENSP00000445246
• ENST00000543643
• ENSP00000444011
• ENST00000622544
• ENSP00000477796

Symbol

• DYT5
• GCH
• GCH
• DYT5
• DYT14
• DYT5a
• GTPCH1
• HPABH4B
• GTP-CH-1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	0.99
virus perturbation	0.96
gene perturbation	0.9
PubMedID	0.86
biological process	0.85

Protein Classes

PANTHER Classes

Protein / Hydrolase / Gtp Cyclohydrolase 1

DTO Classes

Protein / Enzyme / Hydrolase / Gtp Cyclohydrolase 1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 482.7   (req: < 5)

Gene RIFs: 150   (req: <= 3)

Antibodies: 281   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 482.7   (req: >= 5)

Gene RIFs: 150   (req: > 3)

Antibodies: 281   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 31

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0