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    Gch1 GTP cyclohydrolase 1 [ Mus musculus (house mouse) ]

    Gene ID: 14528, updated on 4-Jan-2025

    Summary

    Official Symbol
    Gch1provided by MGI
    Official Full Name
    GTP cyclohydrolase 1provided by MGI
    Primary source
    MGI:MGI:95675
    See related
    Ensembl:ENSMUSG00000037580 AllianceGenome:MGI:95675
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Gch; GTPCH; GTP-CH; GTP-CH-I
    Summary
    Enables GTP cyclohydrolase I activity. Involved in positive regulation of heart rate. Acts upstream of or within regulation of lung blood pressure. Predicted to be located in several cellular components, including cytosol; mitochondrion; and nucleus. Predicted to be part of protein-containing complex. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study BH4-deficient hyperphenylalaninemia B. Human ortholog(s) of this gene implicated in several diseases, including BH4-deficient hyperphenylalaninemia B; diabetic angiopathy; movement disease (multiple); sickle cell anemia; and type 2 diabetes mellitus. Orthologous to human GCH1 (GTP cyclohydrolase 1). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Biased expression in liver adult (RPKM 53.7), adrenal adult (RPKM 35.5) and 10 other tissues See more
    Orthologs
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    Genomic context

    See Gch1 in Genome Data Viewer
    Location:
    14 C1; 14 24.6 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (47391352..47426870, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (47153895..47189413, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene sterile alpha motif domain containing 4 Neighboring gene predicted gene 10371 Neighboring gene predicted gene, 52169 Neighboring gene STARR-positive B cell enhancer ABC_E4106 Neighboring gene poly(A) binding protein, cytoplasmic 2 pseudogene Neighboring gene CapStarr-seq enhancer MGSCv37_chr14:47842732-47842946 Neighboring gene STARR-seq mESC enhancer starr_36567 Neighboring gene WD repeat and HMG-box DNA binding protein 1 Neighboring gene predicted gene, 24378 Neighboring gene suppressor of cytokine signaling 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTP binding  
    enables GTP binding  
    enables GTP binding  
    enables GTP cyclohydrolase I activity  
    enables GTP cyclohydrolase I activity PubMed 
    enables GTP cyclohydrolase I activity  
    enables GTP-dependent protein binding  
    enables GTP-dependent protein binding  
    enables GTPase activity  
    enables GTPase activity  
    enables calcium ion binding  
    enables calcium ion binding  
    enables identical protein binding  
    enables mitogen-activated protein kinase binding  
    enables mitogen-activated protein kinase binding  
    enables protein homodimerization activity  
    enables protein homodimerization activity  
    enables protein-containing complex binding  
    enables protein-containing complex binding  
    enables zinc ion binding  
    enables zinc ion binding  
    enables zinc ion binding  
    Items 1 - 25 of 40
    Process Evidence Code Pubs
    involved_in cellular response to lipopolysaccharide PubMed 
    involved_in dihydrobiopterin metabolic process  
    involved_in dihydrobiopterin metabolic process  
    involved_in dopamine biosynthetic process  
    involved_in dopamine biosynthetic process  
    involved_in negative regulation of blood pressure  
    involved_in negative regulation of blood pressure  
    involved_in negative regulation of cardiac muscle cell apoptotic process  
    involved_in negative regulation of cardiac muscle cell apoptotic process  
    involved_in negative regulation of cellular senescence  
    involved_in negative regulation of cellular senescence  
    acts_upstream_of_or_within neuromuscular process controlling posture  
    involved_in positive regulation of heart rate PubMed 
    involved_in positive regulation of neuron apoptotic process  
    involved_in positive regulation of neuron apoptotic process  
    involved_in positive regulation of nitric-oxide synthase activity  
    involved_in positive regulation of telomere maintenance via telomerase  
    involved_in positive regulation of telomere maintenance via telomerase  
    involved_in protein-containing complex assembly  
    involved_in protein-containing complex assembly  
    involved_in pteridine-containing compound biosynthetic process  
    acts_upstream_of_or_within regulation of blood pressure PubMed 
    involved_in regulation of blood pressure  
    acts_upstream_of_or_within regulation of lung blood pressure PubMed 
    involved_in regulation of removal of superoxide radicals  
    involved_in regulation of removal of superoxide radicals  
    involved_in regulation of serotonin biosynthetic process PubMed 
    involved_in response to lipopolysaccharide  
    involved_in response to pain  
    involved_in response to pain  
    involved_in response to tumor necrosis factor  
    involved_in response to tumor necrosis factor  
    involved_in response to type II interferon  
    involved_in response to type II interferon  
    involved_in tetrahydrobiopterin biosynthetic process  
    acts_upstream_of_or_within tetrahydrobiopterin biosynthetic process PubMed 
    involved_in tetrahydrobiopterin biosynthetic process  
    involved_in tetrahydrofolate biosynthetic process  
    involved_in vasodilation  
    involved_in vasodilation  
    Items 1 - 25 of 40
    Component Evidence Code Pubs
    is_active_in cytoplasm  
    located_in cytoplasm  
    located_in cytoplasmic vesicle  
    located_in cytoplasmic vesicle  
    located_in cytosol  
    located_in cytosol  
    located_in mitochondrion  
    located_in mitochondrion  
    located_in nuclear membrane  
    located_in nuclear membrane  
    located_in nucleoplasm  
    located_in nucleoplasm  
    located_in nucleus  
    part_of protein-containing complex  
    part_of protein-containing complex  

    General protein information

    Preferred Names
    GTP cyclohydrolase 1
    Names
    GTP cyclohydrolase I
    NP_032128.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_008102.4NP_032128.1  GTP cyclohydrolase 1

      See identical proteins and their annotated locations for NP_032128.1

      Status: VALIDATED

      Source sequence(s)
      AC154589, AC159006
      Consensus CDS
      CCDS26984.1
      UniProtKB/Swiss-Prot
      Q05915
      UniProtKB/TrEMBL
      Q3U7P6, Q3UC70
      Related
      ENSMUSP00000087405.7, ENSMUST00000089959.7
      Conserved Domains (1) summary
      cd00642
      Location:57241
      GTP_cyclohydro1; GTP cyclohydrolase I (GTP-CH-I) catalyzes the conversion of GTP into dihydroneopterin triphosphate. The enzyme product is the precursor of tetrahydrofolate in eubacteria, fungi, and plants and of the folate analogs in methanogenic bacteria. In ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000080.7 Reference GRCm39 C57BL/6J

      Range
      47391352..47426870 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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