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Gch1 Gene Detail
Summary
  • Symbol
    Gch1
  • Name
    GTP cyclohydrolase 1
  • Synonyms
    GTPCH, GTP-CH
  • Feature Type
    protein coding gene
  • IDs
    MGI:95675
    NCBI Gene: 14528
  • Gene Overview
    MyGene.info: GCH1
Location & Maps
more
  • Sequence Map
    Chr14:47153895-47189402 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      35508 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 24.60 cM, cytoband C2-3
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    GCH1, GTP cyclohydrolase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GCH1, GTP cyclohydrolase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DYT14, DYT5, DYT5a, GCH, GTPCH1, GTP-CH-1, HPABH4B
  • Links
    NCBI Gene ID: 2643
    neXtProt AC: NX_P30793
    UniProt: P30793

  • Chr Location
    14q22.2; chr14:54842005-54902824 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a null mutation display bradycardia, reduced L-DOPA levels and embryonic lethality during organogenesis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    317 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 18
    Genomic 6
    cDNA 11
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-10021
References
more
  • Summaries
    All 54
    Developmental Gene Expression 7
    Gene Ontology 11
    Phenotypes 7
  • 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:237675 Wyler SC, et al., Pet-1 Controls Tetrahydrobiopterin Pathway and Slc22a3 Transporter Genes in Serotonin Neurons. ACS Chem Neurosci. 2015 Jul 15;6(7):1198-205

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
06/13/2017
MGI 6.10
The Jackson Laboratory