Version 5.4
Homo sapiens Gene: GCH1
Summary
InnateDB Gene IDBG-7150.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GCH1
Gene Name GTP cyclohydrolase 1
Synonyms DYT14; DYT5; DYT5a; GCH; GTP-CH-1; GTPCH1; HPABH4B
Species Homo sapiens
Ensembl Gene ENSG00000131979
Encoded Proteins
IDBP-239364
GTP cyclohydrolase 1
IDBP-476523
GTP cyclohydrolase 1
IDBP-600364
GTP cyclohydrolase 1
IDBP-601514
GTP cyclohydrolase 1
IDBP-809515
GTP cyclohydrolase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 14:54842008-54902852
Strand Reverse strand
Band q22.2
Transcripts
ENST00000254299
ENST00000395521
ENST00000395514 ENSP00000378890
ENST00000491895 ENSP00000419045
ENST00000536224 ENSP00000445246
ENST00000543643 ENSP00000444011
ENST00000622544 ENSP00000477796
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 35 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 35 [view]
Protein-Protein 34 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003934 GTP cyclohydrolase I activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0008270 zinc ion binding
GO:0030742 GTP-dependent protein binding
GO:0042803 protein homodimerization activity
GO:0050662 coenzyme binding
Biological Process
GO:0006184 GTP catabolic process
GO:0006461 protein complex assembly
GO:0006729 tetrahydrobiopterin biosynthetic process
GO:0006809 nitric oxide 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:0035998 7,8-dihydroneopterin 3'-triphosphate biosynthetic process
GO:0042311 vasodilation
GO:0042416 dopamine biosynthetic process
GO:0042559 pteridine-containing compound biosynthetic process
GO:0044281 small molecule metabolic process
GO:0045776 negative regulation of blood pressure
GO:0046209 nitric oxide metabolic process
GO:0046654 tetrahydrofolate biosynthetic process
GO:0048265 response to pain
GO:0050884 neuromuscular process controlling posture
GO:0050999 regulation of nitric-oxide synthase activity
GO:0051000 positive regulation of nitric-oxide synthase activity
GO:0051066 dihydrobiopterin metabolic process
GO:0051260 protein homooligomerization
GO:0051291 protein heterooligomerization
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
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000037580
View Gene Order
ENSBTAG00000040151
Not yet available
Pathways
NETPATH
REACTOME
REACT_111176
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation pathway
REACT_12389
eNOS activation and regulation pathway
REACT_12508
Metabolism of nitric oxide pathway
REACT_111217
Metabolism pathway
KEGG
hsa00790
Folate biosynthesis pathway
INOH
INOH website
Folate metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.604206 Hs.717419 Hs.86724
RefSeq NM_000161 NM_001024024 NM_001024070 NM_001024071 XM_005267530
HUGO
OMIM
CCDS CCDS41954 CCDS45110 CCDS9720
HPRD 02573
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca