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Gch1
Gene Detail
 Symbol
Name
ID
Gch1
GTP cyclohydrolase 1
MGI:95675
Synonyms GTPCH, GTP-CH
Feature Type protein coding gene
Genetic Map
Chromosome 14
24.60 cM, cytoband C2-3
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr14:47153895-47189402 bp, - strand
From NCBI annotation of GRCm38

  35508 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:132  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: GTP cyclohydrolase
Gene Tree: Gch1

Human
homologs
Human Homolog GCH1, GTP cyclohydrolase 1
NCBI Gene ID 2643
neXtProt AC  NX_P30793
Human Synonyms  DYT14, DYT5, DYT5a, GCH, GTPCH1, GTP-CH-1, HPABH4B
Human Chr (Location)  14q22.1-q22.2; chr14:54842005-54902885 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human GCH1
Mutations,
alleles, and
phenotypes
All mutations/alleles(1) : Targeted(1)
 
The hph1 mutation may be a mutation in the GTP cyclohydrolase gene, Gch1, although there are no coding sequence changes in the open reading frame; homozygous mice express significanly lower levels of GTP cyclohydrolase.
 
Interactions
Gch1 interacts with 249 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (44 annotations)
Process dihydrobiopterin metabolic process, dopamine biosynthetic process, ...
Component cytoplasm, cytoplasmic vesicle, ...
Function calcium ion binding, catalytic activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (104)    Tissues (101)    Images (15)
Theiler Stages: 14, 16, 18, 20, 21, 22, 27
Assay TypeResults
RNA in situ 95
RT-PCR 9
cDNA source data(10)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(18) Genomic(6) cDNA(11) Primer pair(1)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000037580 (Evidence)
Entrez Gene14528 (Evidence)
NIA Mouse Gene IndexU035468
EC3.5.4.16
Consensus CDS ProjectCCDS26984.1
International Mouse Knockout Project StatusGch1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 14528 NCBI Gene Model | MGI Sequence Detail 35508 C57BL/6J ±  kb
transcript NM_008102 RefSeq | MGI Sequence Detail 2764 C57BL/6 
polypeptide Q05915 UniProt | EBI | MGI Sequence Detail 241 Not Applicable 

For the selected sequences
All sequences(17) RefSeq(2) UniProt(3)
Polymorphisms SNPs within 2kb(321 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001474 GTP cyclohydrolase I
InterPro IPR018234 GTP cyclohydrolase I, conserved site
InterPro IPR020602 GTP cyclohydrolase I/Nitrile oxidoreductase
Protein Ontology PR:000007893 GTP cyclohydrolase 1
Graphical View of Protein Domain Structure
References (Earliest) J:4167 Nomura T, et al., Cloning and sequencing of cDNA encoding mouse GTP cyclohydrolase I. Biochem Biophys Res Commun. 1993 Mar 15;191(2):523-7
(Latest) J:212486 Tie L, et al., GTP cyclohydrolase I prevents diabetic-impaired endothelial progenitor cells and wound healing by suppressing oxidative stress/thrombospondin-1. Am J Physiol Endocrinol Metab. 2014 May 15;306(10):E1120-31
All references(46)
Other
accession IDs
MGD-MRK-10021

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory