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Gch1 Gene Detail
Summary
  • Symbol
    Gch1
  • Name
    GTP cyclohydrolase 1
  • Synonyms
    GTP-CH, GTPCH
  • Feature Type
    protein coding gene
  • IDs
    MGI:95675
    NCBI Gene: 14528
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:47391352-47426870 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 24.60 cM, cytoband C2-3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    997 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95675
 protein coding gene Chr14:47391352-47426870 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021218
 protein coding gene Chr14:40874711-40910996 (-)
A/J MGP_AJ_G0021165
 protein coding gene Chr14:39644617-39680065 (-)
AKR/J MGP_AKRJ_G0021143
 protein coding gene Chr14:41180133-41217864 (-)
BALB/cJ MGP_BALBcJ_G0021169
 protein coding gene Chr14:39693449-39729721 (-)
C3H/HeJ MGP_C3HHeJ_G0020952
 protein coding gene Chr14:40969220-41005124 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021603
 protein coding gene Chr14:42617273-42656156 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019162
 protein coding gene Chr14:39006961-39043107 (-)
CAST/EiJ MGP_CASTEiJ_G0020477
 protein coding gene Chr14:38096825-38133291 (-)
CBA/J MGP_CBAJ_G0020918
 protein coding gene Chr14:43962591-44008692 (-)
DBA/2J MGP_DBA2J_G0021041
 protein coding gene Chr14:39538906-39573542 (-)
FVB/NJ MGP_FVBNJ_G0021026
 protein coding gene Chr14:39276227-39311209 (-)
LP/J MGP_LPJ_G0021111
 protein coding gene Chr14:41161597-41198810 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021051
 protein coding gene Chr14:43320150-43358846 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021636
 protein coding gene Chr14:40736948-40772179 (-)
PWK/PhJ MGP_PWKPhJ_G0020226
 protein coding gene Chr14:36414407-36451224 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020050
 protein coding gene Chr14:36853729-36893385 (-)
WSB/EiJ MGP_WSBEiJ_G0020533
 protein coding gene Chr14:40837618-40875339 (-)



Homology
more
  • Human Ortholog
    GCH1, GTP cyclohydrolase 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GCH1, GTP cyclohydrolase 1
  • Synonyms
    DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B
  • Links
    NCBI Gene ID: 2643
    neXtProt AC: NX_P30793
    UniProt: P30793

  • Chr Location
    14q22.2; chr14:54842008-54902826 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gch1 mouse models; 10 with human GCH1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    23 phenotypes from 3 alleles in 3 genetic backgrounds
    56 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
less
  • All GO Annotations
    86
  • GO References
    12
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    833
  • Tissues
    112
  • cDNA Data
    12
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14528 NCBI Gene Model | MGI Sequence Detail 35519 C57BL/6J ±  kb
    transcript NM_008102 RefSeq | MGI Sequence Detail 2775 ZRU/MplStud  
    polypeptide Q05915 UniProt | EBI | MGI Sequence Detail 241 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 22
      Genomic 6
      cDNA 14
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10021
    References
    more
    • Summaries
      All 104
      Developmental Gene Expression 9
      Diseases 3
      Gene Ontology 12
      Phenotypes 56
    • Earliest
      J:8982 McDonald JD, et al., Biochemical defect of the hph-1 mouse mutant is a deficiency in GTP-cyclohydrolase activity. J Neurochem. 1988 Feb;50(2):655-7
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory