Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | GCH1 | contributors: mct/npt - updated : 03-01-2017 |
HGNC name | GTP cyclohydrolase 1 |
HGNC id | 4193 |
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PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
motifs/domains
|
mono polymer | homomer , dimer , pentamer , polymer |
HOMOLOGY |
interspecies | homolog to murine Gch |
homolog to C.elegans F32G8.6 |
Homologene |
FAMILY |
CATEGORY | enzyme |
SUBCELLULAR LOCALIZATION | extracellular |
intracellular | |
intracellular,cytoplasm,cytosolic | |
intracellular,nucleus,nucleoplasm |
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
protein | splice variants interfere with wild-type GCH1 and inactive variants are incorporated into heterodecamers, decreasing the enzyme stability and activity |
cell & other |
REGULATION |
activated by | by phenylalanine through complex formation with the GFRP (GCH feedback regulatory protein) |
inhibited by | by H4-biopterin |
ASSOCIATED DISORDERS |
corresponding disease(s) | DYT5 , GTPCD |
related resource | GTP Cyclohydrolase I deficiency-BIOMED/BIODEF database |
Susceptibility |
|
Variant & Polymorphism other | |
| |
Candidate gene
Marker
| Therapy target
|
| |
ANIMAL & CELL MODELS |