Gene table of GCH1 : GTP cyclohydrolase 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with GCH1OMIM linkNumber of associated genesgenes
PS128100DYSTONIAClinVar, OMIM, HUMSAVAR link to OMIM 18DRD2, GNAL, ANO3, SLC2A1, KCTD17, HPCA, THAP1, GCH1, PRRT2, ATP1A3, PNKD, PRKRA, COL6A3, TOR1A, CACNA1B, SGCE, TAF1, TUBB4A
233910HYPERPHENYLALANINEMIA, BH4-DEFICIENT, BClinVar, OMIM, HUMSAVAR link to OMIM 1GCH1

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Annotation of the gene GCH1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Metabolic pathwayshsa011002.49
Folate biosynthesishsa007908.86
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulationR-HSA-14741519.66
MetabolismR-HSA-14307282.34
eNOS activation and regulationR-HSA-2037658.81
Metabolism of nitric oxideR-HSA-2021318.81
Associated GO terms for Molecular function
GO termGO IDGO IC
purine ribonucleoside triphosphate bindingGO:00356392.22
GTP cyclohydrolase I activityGO:00039349.74
GTP cyclohydrolase activityGO:00039339.74
bindingGO:00054880.18
purine nucleoside bindingGO:00018832.22
ion bindingGO:00431671.36
heterocyclic compound bindingGO:19013631.06
nucleoside phosphate bindingGO:19012651.96
nucleoside bindingGO:00018822.21
coenzyme bindingGO:00506624.53
GTP-dependent protein bindingGO:00307426.91
transition metal ion bindingGO:00469142.48
nucleotide bindingGO:00001661.96
guanyl ribonucleotide bindingGO:00325613.73
cyclohydrolase activityGO:00192387.95
calcium ion bindingGO:00055093.17
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
metal ion bindingGO:00468721.41
identical protein bindingGO:00428022.63
protein homodimerization activityGO:00428033.16
hydrolase activityGO:00167871.9
cation bindingGO:00431691.4
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
cofactor bindingGO:00480374.16
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
hydrolase activity, acting on carbon-nitrogen (but not peptide) bondsGO:00168104.76
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidinesGO:00168146.21
guanyl nucleotide bindingGO:00190013.73
protein bindingGO:00055150.46
purine ribonucleotide bindingGO:00325552.2
protein dimerization activityGO:00469832.72
GTP bindingGO:00055253.78
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19
zinc ion bindingGO:00082702.66