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Aga aspartylglucosaminidase [ Mus musculus (house mouse) ]

Gene ID: 11593, updated on 2-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 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 IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein deglycosylation IEA
Inferred from Electronic Annotation
more info
  
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

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