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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

HCOP human homology predictions: GCH1
Protein SuperFamily: GTP cyclohydrolase
Gene Tree: Gch1

Human
homologs
GCH1, GTP cyclohydrolase 1
Orthology source: HomoloGene

IDs:
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.p2

Disease Associations: (2) Diseases Associated with Human GCH1

Mutations,
alleles, and
phenotypes
All mutations/alleles(2) : Targeted(2)
 
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: (48 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: (6 records)
Data Summary: Results (104)    Tissues (101)    Images (15)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 95
RT-PCR 9
cDNA source data(10)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase gch1 ; ZFIN gch1, gch2    NEW 
Molecular
reagents
All nucleic(18) Genomic(6) cDNA(11) Primer pair(1)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000037580 (Evidence)
Entrez Gene 14528 (Evidence)
NIA Mouse Gene Index U035468
EC 3.5.4.16
Consensus CDS Project CCDS26984.1
International Mouse Phenotyping Consortium Status Gch1
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:220265 McNeill E, et al., Regulation of iNOS function and cellular redox state by macrophage Gch1 reveals specific requirements for tetrahydrobiopterin in NRF2 activation. Free Radic Biol Med. 2015 Feb;79:206-16
All references(48)
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
07/21/2015
MGI 5.22
The Jackson Laboratory