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    Gchfr GTP cyclohydrolase I feedback regulator [ Mus musculus (house mouse) ]

    Gene ID: 320415, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Gchfrprovided by MGI
    Official Full Name
    GTP cyclohydrolase I feedback regulatorprovided by MGI
    Primary source
    MGI:MGI:2443977
    See related
    Ensembl:ENSMUSG00000046814 AllianceGenome:MGI:2443977
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    P35; GFRP; 2010323F13Rik
    Summary
    Predicted to enable several functions, including GTP cyclohydrolase binding activity; GTP-dependent protein binding activity; and identical protein binding activity. Predicted to be involved in protein-containing complex assembly. Predicted to be located in dendrite; melanosome; and nucleus. Predicted to be part of protein-containing complex. Predicted to be active in cytoplasm and nucleus. Is expressed in dorsal raphe nucleus; medulla oblongata basal plate marginal layer; midbrain mantle layer; and pons marginal layer. Orthologous to human GCHFR (GTP cyclohydrolase I feedback regulator). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in liver adult (RPKM 229.2), kidney adult (RPKM 48.3) and 10 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gchfr in Genome Data Viewer
    Location:
    2 E5; 2 59.97 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (118998269..119002870)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (119167788..119172389)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene RAD51 recombinase Neighboring gene regulator of microtubule dynamics 3 Neighboring gene STARR-positive B cell enhancer ABC_E7851 Neighboring gene DnaJ heat shock protein family (Hsp40) member C17 Neighboring gene predicted gene 14137 Neighboring gene 40S ribosomal protein S6 (Phosphoprotein NP33)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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

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    Related articles in PubMed

    1. GTP cyclohydrolase I expression, protein, and activity determine intracellular tetrahydrobiopterin levels, independent of GTP cyclohydrolase feedback regulatory protein expression. Tatham AL, et al. J Biol Chem, 2009 May 15. PMID 19286659, Free PMC Article
    2. GTP cyclohydrolase I phosphorylation and interaction with GTP cyclohydrolase feedback regulatory protein provide novel regulation of endothelial tetrahydrobiopterin and nitric oxide. Li L, et al. Circ Res, 2010 Feb 5. PMID 19926872, Free PMC Article
    3. Pet-1 Controls Tetrahydrobiopterin Pathway and Slc22a3 Transporter Genes in Serotonin Neurons. Wyler SC, et al. ACS Chem Neurosci, 2015 Jul 15. PMID 25642596, Free PMC Article
    4. BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system. Magdaleno S, et al. PLoS Biol, 2006 Apr. PMID 16602821, Free PMC Article
    5. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Studies provide a new mechanism for regulation of endothelial GTPCH-1 by its phosphorylation and interplay with GFRP.
      Title: GTP cyclohydrolase I phosphorylation and interaction with GTP cyclohydrolase feedback regulatory protein provide novel regulation of endothelial tetrahydrobiopterin and nitric oxide.
    2. GTPCH expression is the primary regulator of BH4 levels, and changes in GTPCH or BH4 are not necessarily accompanied by changes in GFRP expression.
      Title: GTP cyclohydrolase I expression, protein, and activity determine intracellular tetrahydrobiopterin levels, independent of GTP cyclohydrolase feedback regulatory protein expression.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (1) 

    Pathways from PubChem

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    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTP cyclohydrolase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTP cyclohydrolase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables GTP-dependent protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables amino acid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables enzyme inhibitor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein-containing complex assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in dendrite ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in melanosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    GTP cyclohydrolase 1 feedback regulatory protein
    Names
    GTP cyclohydrolase I feedback regulatory protein

    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_177157.4 → NP_796131.1  GTP cyclohydrolase 1 feedback regulatory protein

      See identical proteins and their annotated locations for NP_796131.1

      Status: PROVISIONAL

      Source sequence(s)
      AK028116
      Consensus CDS
      CCDS38204.1
      UniProtKB/Swiss-Prot
      P99025, Q8BH29
      UniProtKB/TrEMBL
      Q4VAF4
      Related
      ENSMUSP00000060835.4, ENSMUST00000057454.4
      Conserved Domains (1) summary
      pfam06399
      Location:3 → 83
      GFRP; GTP cyclohydrolase I feedback regulatory protein (GFRP)

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      118998269..119002870
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P99025.3 GenPept UniProtKB/Swiss-Prot:P99025

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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