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    Pfas phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) [ Mus musculus (house mouse) ]

    Gene ID: 237823, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Pfasprovided by MGI
    Official Full Name
    phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)provided by MGI
    Primary source
    MGI:MGI:2684864
    See related
    Ensembl:ENSMUSG00000020899 AllianceGenome:MGI:2684864
    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
    Gm18; PURL; Sofa; FGAMS; FGARAT; FGAR-AT; 4432409B16Rik
    Summary
    Predicted to enable phosphoribosylformylglycinamidine synthase activity. Acts upstream of or within anterior head development. Predicted to be located in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; cranium; integumental system; and liver. Orthologous to human PFAS (phosphoribosylformylglycinamidine synthase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 10.9), ovary adult (RPKM 10.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pfas in Genome Data Viewer
    Location:
    11 B3; 11 42.26 cM
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (68876527..68899286, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (68985701..69008460, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene solute carrier family 25, member 35 Neighboring gene RAN guanine nucleotide release factor Neighboring gene predicted gene, 32384 Neighboring gene microRNA 3062 Neighboring gene predicted gene, 25819 Neighboring gene STARR-positive B cell enhancer ABC_E8416 Neighboring gene STARR-positive B cell enhancer ABC_E589 Neighboring gene STARR-seq mESC enhancer starr_29828 Neighboring gene CTS telomere maintenance complex component 1 Neighboring gene STARR-seq mESC enhancer starr_29829 Neighboring gene STARR-positive B cell enhancer ABC_E7000 Neighboring gene nuclear encoded tRNA isoleucine 5 (anticodon AAT)

    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
    • 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. Expression of the purine biosynthetic enzyme phosphoribosyl formylglycinamidine synthase in neurons. Mangold CA, et al. J Neurochem, 2018 Mar. PMID 29337348, Free PMC Article
    2. CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation. Baresova V, et al. Mol Genet Metab, 2016 Nov. PMID 27590927
    3. Mutation discovery in mice by whole exome sequencing. Fairfield H, et al. Genome Biol, 2011 Sep 14. PMID 21917142, Free PMC Article
    4. Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology. Palmer K, et al. Dev Biol, 2016 Jul 15. PMID 26234751, Free PMC Article
    5. Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Fairfield H, et al. Genome Res, 2015 Jul. PMID 25917818, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Spontaneous (4)  1 citation
    • Transgenic (1) 
    • Gene trapped (1) 
    • Chemically induced (ENU) (2)  1 citation
    • Endonuclease-mediated (5) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphoribosylformylglycinamidine synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphoribosylformylglycinamidine synthase activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in 'de novo' AMP biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in 'de novo' IMP biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in 'de novo' XMP biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in GMP biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    acts_upstream_of_or_within anterior head development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in glutamine metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in purine nucleotide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    phosphoribosylformylglycinamidine synthase
    Names
    FGAM synthase
    FGAR amidotransferase
    formylglycinamide ribonucleotide amidotransferase
    formylglycinamide ribotide amidotransferase
    formylglycinamide ribotide synthetase
    NP_001152991.1

    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_001159519.1 → NP_001152991.1  phosphoribosylformylglycinamidine synthase

      See identical proteins and their annotated locations for NP_001152991.1

      Status: VALIDATED

      Source sequence(s)
      AL645902, AL714000
      Consensus CDS
      CCDS48823.1
      UniProtKB/Swiss-Prot
      A4FUJ6, Q5SUR0, Q6A080
      Related
      ENSMUSP00000021282.6, ENSMUST00000021282.12
      Conserved Domains (4) summary
      cd02203
      Location:218 → 608
      PurL_repeat1; PurL subunit of the formylglycinamide ribonucleotide amidotransferase (FGAR-AT), first repeat. FGAR-AT catalyzes the ATP-dependent conversion of formylglycinamide ribonucleotide (FGAR) and glutamine to formylglycinamidine ribonucleotide (FGAM), ADP, ...
      cd02204
      Location:706 → 980
      PurL_repeat2; PurL subunit of the formylglycinamide ribonucleotide amidotransferase (FGAR-AT), second repeat. FGAR-AT catalyzes the ATP-dependent conversion of formylglycinamide ribonucleotide (FGAR) and glutamine to formylglycinamidine ribonucleotide (FGAM), ADP, ...
      TIGR01735
      Location:7 → 1332
      FGAM_synt; phosphoribosylformylglycinamidine synthase, single chain form
      pfam13507
      Location:1062 → 1331
      GATase_5; CobB/CobQ-like glutamine amidotransferase domain

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      68876527..68899286 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SUR0.1 GenPept UniProtKB/Swiss-Prot:Q5SUR0

    Gene LinkOut

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