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

Expression

All Expression Data

6 figures from 4 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 6 figures from Larbalestier et al., 2021
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	128230
dystonia, DOPA-responsive	Alliance	Dystonia, DOPA-responsive	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:E7FGQ8 InterPro	251

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
aberrant processed transcript	gch1-202 (1) Ensembl	Havana	642 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	gch1-201 (1) Ensembl	Havana	5184 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-gch1	polyclonal	gch1		Rabbit	IHC	EUROGENTEC S.A.	2

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations