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; dopaminergic neurons; 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
Comparative Information
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression 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
BH4-deficient hyperphenylalaninemia B Alliance Hyperphenylalaninemia, BH4-deficient, B 233910
dystonia 5 Alliance Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230
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
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:F8W3B2 99
UniProtKB:B3DKG7 104
UniProtKB:A0A2R8RRY9 104
UniProtKB:E7FGQ8 251
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations