GTP cyclohydrolase I

GCH1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1FB1
Identifiers
Aliases	GCH1, DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B, GTP cyclohydrolase 1
External IDs	OMIM: 600225; MGI: 95675; HomoloGene: 132; GeneCards: GCH1; OMA:GCH1 - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q22.2 Start 54,842,008 bp[1] End 54,902,826 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14 C1|14 24.6 cM Start 47,391,352 bp[2] End 47,426,870 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte beta cell jejunal mucosa kidney tubule cartilage tissue palpebral conjunctiva mononuclear cell monocyte epithelium of nasopharynx right lobe of liver Top expressed in superior cervical ganglion pineal gland left lobe of liver islet of Langerhans zygote gastrula pyloric antrum secondary oocyte cumulus cell tibiofemoral joint More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding calcium ion binding protein homodimerization activity zinc ion binding GTP binding metal ion binding protein binding catalytic activity hydrolase activity GTP cyclohydrolase I activity mitogen-activated protein kinase binding GTPase activity GTP-dependent protein binding translation initiation factor binding Cellular component cytoplasm cytosol nuclear membrane nucleoplasm cytoplasmic vesicle nucleus neuron projection terminus protein-containing complex Biological process nitric oxide biosynthetic process response to interferon-gamma neuromuscular process controlling posture protein heterooligomerization negative regulation of blood pressure dopamine biosynthetic process regulation of lung blood pressure vasodilation pteridine-containing compound biosynthetic process 7,8-dihydroneopterin 3'-triphosphate biosynthetic process dihydrobiopterin metabolic process regulation of blood pressure response to tumor necrosis factor tetrahydrofolate biosynthetic process response to lipopolysaccharide positive regulation of nitric-oxide synthase activity response to pain tetrahydrobiopterin biosynthetic process metabolism protein homooligomerization regulation of removal of superoxide radicals positive regulation of heart rate protein-containing complex assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2643 14528 Ensembl ENSG00000131979 ENSMUSG00000037580 UniProt P30793 Q05915 RefSeq (mRNA) NM_000161 NM_001024024 NM_001024070 NM_001024071 NM_008102 RefSeq (protein) NP_000152 NP_001019195 NP_001019241 NP_001019242 NP_032128 Location (UCSC) Chr 14: 54.84 – 54.9 Mb Chr 14: 47.39 – 47.43 Mb PubMed search [3] [4]
Wikidata
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GTP cyclohydrolase I (GTPCH) (EC 3.5.4.16) is a member of the GTP cyclohydrolase family of enzymes. GTPCH is part of the folate and biopterin biosynthesis pathways. It is responsible for the hydrolysis of guanosine triphosphate (GTP) to form 7,8-dihydroneopterin triphosphate (7,8-DHNP-3'-TP, 7,8-NH₂-3'-TP).