Gene
gch1
- ID
- ZDB-GENE-070720-5
- Name
- GTP cyclohydrolase 1
- Symbol
- gch1 Nomenclature History
- Previous Names
-
- gch1a (1)
- wu:fc16b10
- zgc:195269
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable GTP binding activity; GTP cyclohydrolase I activity; and zinc ion binding activity. Predicted to be involved in tetrahydrobiopterin biosynthetic process. Predicted to act upstream of or within tetrahydrofolate biosynthetic process. Predicted to be active in cytoplasm. Is expressed in brain; dopaminergic neurons; trunk; and xanthophore. Human ortholog(s) of this gene implicated in BH4-deficient hyperphenylalaninemia B; bipolar disorder; dystonia; and dystonia 5. Orthologous to human GCH1 (GTP cyclohydrolase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 6 figures from Larbalestier et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| BH4-deficient hyperphenylalaninemia B | Alliance | Hyperphenylalaninemia, BH4-deficient, B | 233910 |
| dopa-responsive dystonia | Alliance | Dystonia, DOPA-responsive | 128230 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018234 | GTP cyclohydrolase I, conserved site |
| Domain | IPR020602 | GTP cyclohydrolase I domain |
| Family | IPR001474 | GTP cyclohydrolase I |
| Homologous_superfamily | IPR043133 | GTP cyclohydrolase I, C-terminal/NADPH-dependent 7-cyano-7-deazaguanine reductase |
| Homologous_superfamily | IPR043134 | GTP cyclohydrolase I, N-terminal domain |
Domain Details Per Protein
| Protein | Length | GTP cyclohydrolase I | GTP cyclohydrolase I, conserved site | GTP cyclohydrolase I, C-terminal/NADPH-dependent 7-cyano-7-deazaguanine reductase | GTP cyclohydrolase I domain | GTP cyclohydrolase I, N-terminal domain |
|---|---|---|---|---|---|---|
|
UniProtKB:E7FGQ8
|
251 |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-gch1 | polyclonal | Rabbit |
|
EUROGENTEC S.A.
|
2 |
Plasmids
No data available