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    Aga aspartylglucosaminidase [ Mus musculus (house mouse) ]

    Gene ID: 11593, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Agaprovided by MGI
    Official Full Name
    aspartylglucosaminidaseprovided by MGI
    Primary source
    MGI:MGI:104873
    See related
    Ensembl:ENSMUSG00000031521 AllianceGenome:MGI:104873
    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
    This gene encodes an amidase enzyme that participates in the breakdown of glycoproteins in the cell. The encoded protein undergoes proteolytic processing to generate a mature enzyme. Mice lacking the encoded protein exhibit accumulation of aspartylglucosamine along with lysosomal vacuolization, axonal swelling in the gracile nucleus and impaired neuromotor coordination. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015]
    Expression
    Ubiquitous expression in bladder adult (RPKM 7.4), placenta adult (RPKM 6.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Aga in Genome Data Viewer
    Location:
    8 B1.3; 8 29.13 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (53964718..53976457)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (53511683..53523422)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39180 Neighboring gene predicted gene, 22841 Neighboring gene STARR-seq mESC enhancer starr_21488 Neighboring gene predicted gene, 39181 Neighboring gene STARR-seq mESC enhancer starr_21489 Neighboring gene nei like 3 (E. coli) Neighboring gene predicted gene, 57525

    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. A mouse model for the human lysosomal disease aspartylglycosaminuria. Kaartinen V, et al. Nat Med, 1996 Dec. PMID 8946839
    2. Phenotypic characterization of mice with targeted disruption of glycosylasparaginase gene: a mouse model for aspartylglycosaminuria. Kaartinen V, et al. J Inherit Metab Dis, 1998 Jun. PMID 9686358
    3. Progressive neurodegeneration in aspartylglycosaminuria mice. Gonzalez-Gomez I, et al. Am J Pathol, 1998 Oct. PMID 9777961, Free PMC Article
    4. Monitoring the CNS pathology in aspartylglucosaminuria mice. Tenhunen K, et al. J Neuropathol Exp Neurol, 1998 Dec. PMID 9862638
    5. Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse. Peltola M, et al. Gene Ther, 1998 Oct. PMID 9930336

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. there is evidence for a role for storage of glycoasparagines other than aspartylglucosamine in the pathogenesis of aspartylglycosaminuria
      Title: Massive accumulation of Man2GlcNAc2-Asn in nonneuronal tissues of glycosylasparaginase-deficient mice and its removal by enzyme replacement therapy.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein deglycosylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosome ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase
    Names
    N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase
    glycosylasparaginase
    NP_001005847.1
    NP_001191983.1
    XP_006509312.2

    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_001005847.3 → NP_001005847.1  N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_001005847.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC108413
      Consensus CDS
      CCDS22304.1
      UniProtKB/Swiss-Prot
      Q64191
      UniProtKB/TrEMBL
      A2RSS6
      Related
      ENSMUSP00000033920.5, ENSMUST00000033920.6
      Conserved Domains (1) summary
      cd04513
      Location:29 → 332
      Glycosylasparaginase; Glycosylasparaginase and similar proteins

    2. NM_001205054.2 → NP_001191983.1  N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform 2 precursor

      See identical proteins and their annotated locations for NP_001191983.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses alternate in-frame splice sites in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AC108413
      Consensus CDS
      CCDS85539.1
      UniProtKB/TrEMBL
      B7ZNK6
      Related
      ENSMUSP00000148133.2, ENSMUST00000211424.2
      Conserved Domains (1) summary
      cd04513
      Location:29 → 322
      Glycosylasparaginase; Glycosylasparaginase and similar proteins

    RNA

    1. NR_183623.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC108413

    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
      53964718..53976457
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006509249.4 → XP_006509312.2  N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform X1

      Conserved Domains (1) summary
      cd04513
      Location:29 → 313
      Glycosylasparaginase; Glycosylasparaginase and similar proteins
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q64191.1 GenPept UniProtKB/Swiss-Prot:Q64191

    Gene LinkOut

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

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