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 have GTP binding activity; GTP cyclohydrolase I activity; and zinc ion binding activity. Predicted to be involved in tetrahydrobiopterin biosynthetic process. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in bipolar disorder; dystonia; and dystonia 5. Is expressed in brain; trunk; and xanthophore. 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