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Gene Information
Gene ID:2643
Full Name:GTP cyclohydrolase 1 (dopa-responsive dystonia)
Organism:Homo sapiens (Human)
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).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:GCH1
Original ID2:U19523
Dataset Information
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
Original ID1:GCH1
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.
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_000161.2NP_000152.1NC_000014.7 range: 54378472..54439291, complement
NM_001024024.1NP_001019195.1NC_000014.7 range: 54378472..54439291, complement
NM_001024070.1NP_001019241.1NC_000014.7 range: 54378472..54439291, complement
NM_001024071.1NP_001019242.1NC_000014.7 range: 54378472..54439291, complement
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0005737cytoplasmCellular ComponentIEA
GO:0003934GTP cyclohydrolase I activityMolecular FunctionTAS (8702680)
GO:0016787hydrolase activityMolecular FunctionIEA
GO:0008270zinc ion bindingMolecular FunctionIEA
GO:0046872metal ion bindingMolecular FunctionIEA
GO:0005515protein bindingMolecular FunctionIPI (16696853)
GO:0006729tetrahydrobiopterin biosynthetic processBiological ProcessIEA
GO:0006559L-phenylalanine catabolic processBiological ProcessIEA
GO:0019438aromatic compound biosynthetic processBiological ProcessIEA
GO:0042133neurotransmitter metabolic processBiological ProcessTAS (8702680)
GO:0006809nitric oxide biosynthetic processBiological ProcessTAS (8702680)
Other Database Cross Links
NCBI Entrez Gene:2643
HuGE Navigator:2643