Gch1 Gene Summary [Mouse]
Enables GTP cyclohydrolase I activity. Involved in positive regulation of heart rate and tetrahydrobiopterin metabolic process. Acts upstream of or within regulation of lung blood pressure. Is active in cytosol. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study BH4-deficient hyperphenylalaninemia B. Human ortholog(s) of this gene implicated in several diseases, including BH4-deficient hyperphenylalaninemia B; diabetic angiopathy; movement disease (multiple); sickle cell anemia; and type 2 diabetes mellitus. Orthologous to human GCH1 (GTP cyclohydrolase 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Gch1 |
| Official Name | GTP cyclohydrolase 1 [Source:MGI Symbol;Acc:MGI:95675] |
| Ensembl ID | ENSMUSG00000037580 |
| Bio databases IDs | |
| Aliases | GTP cyclohydrolase 1 |
| Synonyms | Cyclohydrolase 1, DYT14, DYT5, DYT5a, GCH, GTP-CH, GTP-CH-1, GTP-CH-I, GTP cyclohydrolase 1, GTP CYCLOHYDROLASE I, HPABH4B |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Gch1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- TFold
- GTP-dependent protein binding
- protein kinase binding
- calcium ion binding
- GTPase
- enzyme
- protein binding
- GTP cyclohydrolase I
- identical protein binding
- GTP binding
- binding protein
- zinc ion binding
- ubiquitin binding domain
- protein homodimerization
Pathways
Biological processes and signaling networks where the Gch1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- diurnal dystonia
- hereditary disorder
- autosomal recessive Segawa syndrome
- GTP cyclohydrolase I deficiency
- hepatocellular carcinoma
- metastatic colorectal cancer
- Parkinson disease
- azoxymethane/dextran sodium sulfate induced colorectal cancer
- OVA-induced allergic lung inflammation
role in cell
- survival
- morphology
- cell viability
- apoptosis
- accumulation in
- expression in
- proliferation
- invasion by
- production in
- binding in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- Plasma Membrane
- Mitochondria
- cytosol
- nucleoplasm
- nuclear envelope
- nerve ending
- cytoplasmic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Gch1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of heart rate
- dopamine biosynthetic process
- pteridine-containing compound biosynthetic process
- macromolecular complex assembly
- response to interferon-gamma
- negative regulation of blood pressure
- tetrahydrofolate biosynthetic process
- vasodilation
- regulation of blood pressure
- positive regulation of neuron apoptotic process
- response to pain
- neuromuscular process controlling posture
- tetrahydrobiopterin biosynthetic process
- dihydrobiopterin metabolic process
- positive regulation of nitric-oxide synthase activity
- regulation of lung blood pressure
- positive regulation of telomere maintenance via telomerase
- response to lipopolysaccharide
- negative regulation of cardiac muscle cell apoptotic process
- nitric oxide biosynthetic process
- regulation of removal of superoxide radicals
- response to tumor necrosis factor
- negative regulation of cellular senescence
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear membrane
- cytoplasm
- mitochondrion
- cytoplasmic vesicle
- cytosol
- macromolecular complex
- neuron projection terminus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- GTP binding
- identical protein binding
- zinc ion binding
- protein homodimerization activity
- protein binding
- GTP cyclohydrolase I activity
- GTPase activity
- calcium ion binding
- mitogen-activated protein kinase binding
- GTP-dependent protein binding