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    Aprt adenine phosphoribosyl transferase [ Mus musculus (house mouse) ]

    Gene ID: 11821, updated on 27-Nov-2024

    Summary

    Official Symbol
    Aprtprovided by MGI
    Official Full Name
    adenine phosphoribosyl transferaseprovided by MGI
    Primary source
    MGI:MGI:88061
    See related
    Ensembl:ENSMUSG00000006589 AllianceGenome:MGI:88061
    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
    Summary
    Enables adenine binding activity and adenine phosphoribosyltransferase activity. Involved in AMP salvage; GMP salvage; and IMP salvage. Acts upstream of or within adenine metabolic process; grooming behavior; and purine ribonucleoside salvage. Is active in cytosol. Is expressed in several structures, including alimentary system; brain; cranium; genitourinary system; and sensory organ. Used to study adenine phosphoribosyltransferase deficiency. Human ortholog(s) of this gene implicated in adenine phosphoribosyltransferase deficiency. Orthologous to human APRT (adenine phosphoribosyltransferase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in duodenum adult (RPKM 258.1), placenta adult (RPKM 212.8) and 23 other tissues See more
    Orthologs
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    Genomic context

    See Aprt in Genome Data Viewer
    Location:
    8 E1; 8 71.91 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (123301376..123303646, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (122574637..122576907, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:125080544-125080815 Neighboring gene predicted gene, 34847 Neighboring gene STARR-positive B cell enhancer ABC_E8270 Neighboring gene chromatin licensing and DNA replication factor 1 Neighboring gene galactosamine (N-acetyl)-6-sulfatase Neighboring gene predicted gene, 34962 Neighboring gene 60S ribosomal protein L30 pseudogene

    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)
    • Endonuclease-mediated (3) 
    • Targeted (3)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC11749

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables AMP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables AMP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables adenine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables adenine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables adenine phosphoribosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables adenine phosphoribosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables adenine phosphoribosyltransferase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables adenine phosphoribosyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables adenine phosphoribosyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in AMP salvage IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in AMP salvage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in AMP salvage IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within AMP salvage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in AMP salvage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in GMP salvage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in IMP salvage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within adenine metabolic process IC
    Inferred by Curator
    more info
    PubMed 
    acts_upstream_of_or_within adenine metabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within adenine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in adenine salvage IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in adenine salvage IEA
    Inferred from Electronic Annotation
    more info
     
    NOT acts_upstream_of_or_within grooming behavior IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within grooming behavior IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in lactation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within purine ribonucleoside salvage IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within purine ribonucleoside salvage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol 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
     

    General protein information

    Preferred Names
    adenine phosphoribosyltransferase
    NP_033828.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_009698.2NP_033828.2  adenine phosphoribosyltransferase

      See identical proteins and their annotated locations for NP_033828.2

      Status: VALIDATED

      Source sequence(s)
      AK153201, BY115322
      Consensus CDS
      CCDS40503.1
      UniProtKB/Swiss-Prot
      P08030, Q564P4, Q61319, Q6PK77, Q9DCY3
      Related
      ENSMUSP00000006764.8, ENSMUST00000006764.9
      Conserved Domains (1) summary
      PRK02304
      Location:6180
      PRK02304; adenine phosphoribosyltransferase; Provisional

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      123301376..123303646 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)