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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Metabolic proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
14
Cytoband
q22.2
Chromosome location (bp)
54842008 - 54902826
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Allosteric enzyme, Hydrolase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Tetrahydrobiopterin biosynthesis
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Hydrolases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Enzymes ENZYME proteins Hydrolases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0003824[catalytic activity] GO:0003924[GTPase activity] GO:0003933[GTP cyclohydrolase activity] GO:0003934[GTP cyclohydrolase I activity] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005525[GTP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006729[tetrahydrobiopterin biosynthetic process] GO:0006809[nitric oxide biosynthetic process] GO:0008152[metabolic process] GO:0008217[regulation of blood pressure] GO:0008270[zinc ion binding] GO:0010460[positive regulation of heart rate] GO:0014916[regulation of lung blood pressure] GO:0016787[hydrolase activity] GO:0030742[GTP-dependent protein binding] GO:0031369[translation initiation factor binding] GO:0031410[cytoplasmic vesicle] GO:0031965[nuclear membrane] GO:0032496[response to lipopolysaccharide] GO:0032991[protein-containing complex] GO:0034341[response to type II interferon] GO:0034612[response to tumor necrosis factor] GO:0035998[7,8-dihydroneopterin 3'-triphosphate biosynthetic process] GO:0042311[vasodilation] GO:0042416[dopamine biosynthetic process] GO:0042559[pteridine-containing compound biosynthetic process] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0044306[neuron projection terminus] GO:0044877[protein-containing complex binding] GO:0045776[negative regulation of blood pressure] GO:0046654[tetrahydrofolate biosynthetic process] GO:0046872[metal ion binding] GO:0048265[response to pain] GO:0050884[neuromuscular process controlling posture] GO:0051000[positive regulation of nitric-oxide synthase activity] GO:0051019[mitogen-activated protein kinase binding] GO:0051066[dihydrobiopterin metabolic process] GO:0065003[protein-containing complex assembly] GO:2000121[regulation of removal of superoxide radicals]
Enzymes ENZYME proteins Hydrolases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Enzymes ENZYME proteins Hydrolases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
The Human Protein Atlas project is funded
