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. Is expressed in brain; trunk; and xanthophore. Human ortholog(s) of this gene implicated in bipolar disorder; dystonia; and dystonia 5. Orthologous to human GCH1 (GTP cyclohydrolase 1).
Genome Resources
Note
None
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gch1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
dystonia 5 Alliance Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230
Hyperphenylalaninemia, BH4-deficient, B 233910
Associated With gch1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Domain Details Per Protein
Protein Length GTP cyclohydrolase I GTP cyclohydrolase I, conserved site GTP cyclohydrolase I domain
UniProtKB:E7FGQ8 251
UniProtKB:B3DKG7 104
UniProtKB:F8W3B2 99
UniProtKB:A0A2R8RRY9 104
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations