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 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; chr14:55308723-55369542 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human GCH1

Alleles and phenotypes

All 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.

 

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, 28

Assay Type	Results
RNA in situ	95
RT-PCR	9

cDNA source data(10)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

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 Knockout Project Status	Gch1

Sequences

Length	Strain/Species
genomic	14528	NCBI Gene Model | MGI Sequence Detail	35508	C57BL/6J
transcript	NM_008102	RefSeq | MGI Sequence Detail	2764	C57BL/6
polypeptide	Q05915	UniProt | EBI | MGI Sequence Detail	241	Not Applicable

All sequences(17) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(131 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:179296 Belik J, et al., Pulmonary hypertension in the newborn GTP cyclohydrolase I-deficient mouse. Free Radic Biol Med. 2011 Dec 15;51(12):2227-33
All references(44)

Other accession IDs

MGD-MRK-10021