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Description for Protein GCH1

GTP cyclohydrolase 1
9 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
3.5.4.16
KEGG - Orthology:
K01495
KEGG - Pathway(s):
hsa00790; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
GTP CH I; GCH; DYT5; GTP cyclohydrolase 1 (dopa-responsive dystonia); GTP-CH-1; GTP cyclohydrolase 1 isoform 2; GTP cyclohydrolase 1 isoform 1; GTP cyclohydrolase 1 isoform 3
Approved Symbol:
GCH1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 2
Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • Guanine(db);
  • Isopropyl Alcohol(db)

    Associated Genetic Diseases:

  • Dystonia with motor delay(Pd);
  • Dystonia, DOPA-responsive(Pd);
  • Dystonia, DOPA-responsive, autosomal recessive(Pd);
  • Gtp cyclohydrolase i deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02573 Entrez Gene ID: 2643 OMIM ID: 600225 Swissprot Accession: P30793; Q8IZH9;