| Gene Information |
| Gene ID: | | 2643 |
| Symbol: | | GCH1 |
| Full Name: | | GTP cyclohydrolase 1 (dopa-responsive dystonia) |
| Alias: | | DYT5|GCH|GTP-CH-1|GTPCH1 |
| Organism: | | Homo sapiens (Human) |
| Chromosome: | | 14 |
| Genetic Location: | | 14q22.1-q22.2 |
| Physical Location: | | 54378472-54439291 on NC_000014.7, complement |
| Gene Type: | | protein-coding |
| Orthologs: | | This gene has no orthologs in other dataset(s). |
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| Gene in Ethanol Study Datasets |
| Gene Information | | Original ID1: | | GCH1 | | Original ID2: | | U19523 |
| | Dataset Information | | Name: | | 11093800 | | Method: | | Microarray | | Tissue: | | SH-SY5Y neuroblastoma cells | | Phenotype: | | Ethanol response | | Publication: | | Thibault et al. Mol Pharmacol. (2000) Expression profiling of neural cells reveals specific patterns of ethanol-responsive gene expression. PubMed | | Summary: | | We used oligonucleotide arrays to study nearly 6000 genes in human SH-SY5Y neuroblastoma cells exposed to chronic ethanol. A set of 42 genes had consistently increased or decreased mRNA abundance after 3 days of ethanol treatment. |
| | Gene Information | | | Dataset Information | | Name: | | Literature Search | | Method: | | Literature search | | Summary: | | We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive. |
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| Gene Refseq Sequence Annotation |
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| Gene Ontology (GO) Annotation |
| GO ID | GO Term | Category | Evidence (PubMed) | |
| GO:0005737 | cytoplasm | Cellular Component | IEA | |
| GO:0003934 | GTP cyclohydrolase I activity | Molecular Function | TAS (8702680) | |
| GO:0016787 | hydrolase activity | Molecular Function | IEA | |
| GO:0008270 | zinc ion binding | Molecular Function | IEA | |
| GO:0046872 | metal ion binding | Molecular Function | IEA | |
| GO:0005515 | protein binding | Molecular Function | IPI (16696853) | |
| GO:0006729 | tetrahydrobiopterin biosynthetic process | Biological Process | IEA | |
| GO:0006559 | L-phenylalanine catabolic process | Biological Process | IEA | |
| GO:0019438 | aromatic compound biosynthetic process | Biological Process | IEA | |
| GO:0042133 | neurotransmitter metabolic process | Biological Process | TAS (8702680) | |
| GO:0006809 | nitric oxide biosynthetic process | Biological Process | TAS (8702680) | |
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| Other Database Cross Links |
| NCBI Entrez Gene: | | 2643 |
| HGNC: | | 4193 |
| Ensembl: | | ENSG00000131979 |
| MIM: | | 600225 |
| HPRD: | | 02573 |
| HuGE Navigator: | | 2643 |
| dbSNP: | | GCH1 |
| GeneCard: | | GCH1 |
| AceView: | | GCH1 |
