Bos taurus Gene: GCH1
Summary
InnateDB Gene IDBG-646712.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GCH1
Gene Name Uncharacterized protein
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000040151
Encoded Proteins
GTP cyclohydrolase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000131979:
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:67576390-67631089
Strand Reverse strand
Band
Transcripts
ENSBTAT00000009020 ENSBTAP00000009020
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 17 interaction(s) predicted by orthology.
Predicted by orthology
Total 17 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003934 GTP cyclohydrolase I activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0008270 zinc ion binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0006184 GTP catabolic process
GO:0006729 tetrahydrobiopterin biosynthetic process
GO:0008152 metabolic process
GO:0008217 regulation of blood pressure
GO:0014916 regulation of lung blood pressure
GO:0032496 response to lipopolysaccharide
GO:0034341 response to interferon-gamma
GO:0034612 response to tumor necrosis factor
GO:0042416 dopamine biosynthetic process
GO:0042559 pteridine-containing compound biosynthetic process
GO:0046654 tetrahydrofolate biosynthetic process
GO:0050884 neuromuscular process controlling posture
GO:0051000 positive regulation of nitric-oxide synthase activity
GO:0051260 protein homooligomerization
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0031410 cytoplasmic vesicle
GO:0031965 nuclear membrane
GO:0043234 protein complex
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation pathway
eNOS activation and regulation pathway
Metabolism of nitric oxide pathway
Metabolism pathway
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation pathway
eNOS activation and regulation pathway
Metabolism pathway
Metabolism of nitric oxide pathway
KEGG
Folate biosynthesis pathway
Folate biosynthesis pathway
INOH
Folate metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL F1MZ14
UniProt Splice Variant
Entrez Gene 286815
UniGene Bt.13878
RefSeq XM_002690949
HUGO HGNC:4193
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02029198 DAAA02029199 DAAA02029200 DAAA02029201
GenPept
RNA Seq Atlas 286815
Transcript Frequencies
Tag Count based mRNA-Abundances across 87 different Tissues (TPM).

Based on Data from Bovine Gene Atlas

Tag Count based mRNA-Abundances across 87 different Tissues (TPM)

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