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    AGA aspartylglucosaminidase [ Homo sapiens (human) ]

    Gene ID: 175, updated on 10-Dec-2017
    Official Symbol
    AGAprovided by HGNC
    Official Full Name
    aspartylglucosaminidaseprovided by HGNC
    Primary source
    HGNC:HGNC:318
    See related
    Ensembl:ENSG00000038002 MIM:613228; Vega:OTTHUMG00000160723
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GA; AGU; ASRG
    Summary
    This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015]
    Expression
    Ubiquitous expression in thyroid (RPKM 10.5), testis (RPKM 10.0) and 25 other tissues See more
    Orthologs
    Location:
    4q34.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (177430774..177442503, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (178351928..178363657, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377557 Neighboring gene uncharacterized LOC105377558 Neighboring gene nei like DNA glycosylase 3 Neighboring gene uncharacterized LOC285500 Neighboring gene RNA, 5S ribosomal pseudogene 172 Neighboring gene uncharacterized LOC105377559

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Aspartylglycosaminuria
    MedGen: C0268225 OMIM: 208400 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.
    NHGRI GWA Catalog
    Genome-wide association study of serum selenium concentrations.
    NHGRI GWA Catalog
    No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk.
    NHGRI GWA Catalog
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • L-asparagine degradation III (mammalian), conserved biosystem (from BIOCYC)
      L-asparagine degradation III (mammalian), conserved biosystemGeneral Background |FRAME: ASN "Asparagine"| is the amide of |FRAME: L-ASPARTATE| and is not an essential amino acid. It is synthesized in humans from |FRAME: OXALACETIC_ACID| in |FRAME: ASPARAGINE-...
    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Other glycan degradation, organism-specific biosystem (from KEGG)
      Other glycan degradation, organism-specific biosystem
      Other glycan degradation
    • Other glycan degradation, conserved biosystem (from KEGG)
      Other glycan degradation, conserved biosystem
      Other glycan degradation
    • asparagine degradation, organism-specific biosystem (from BIOCYC)
      asparagine degradation, organism-specific biosystemGeneral Background : ASN "Asparagine" is the amide of : L-ASPARTATE and is not an essential amino acid. It is synthesized in humans from : OXALACETIC_ACID in : ASPARAGINE-BIOSYNTHESIS. The amide gro...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein self-association IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    protein deglycosylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein deglycosylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein maturation IEA
    Inferred from Electronic Annotation
    more info
     
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase
    Names
    N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase
    aspartylglucosylamine deaspartylase
    glycosylasparaginase
    NP_000018.2
    NP_001165459.1

    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.

    Genomic

    1. NG_011845.2 RefSeqGene

      Range
      5001..16730
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000027.3NP_000018.2  N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_000018.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC027627, AW467768, BC012392, BM968469, DA346002
      Consensus CDS
      CCDS3829.1
      UniProtKB/Swiss-Prot
      P20933
      Related
      ENSP00000264595.2, OTTHUMP00000218812, ENST00000264595.6, OTTHUMT00000361916
      Conserved Domains (1) summary
      cd04513
      Location:29332
      Glycosylasparaginase; Glycosylasparaginase and similar proteins
    2. NM_001171988.1NP_001165459.1  N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses two alternate in-frame splice sites in the central 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)
      AC027627, AW467768, BC012392, BM968469, DA346002
      UniProtKB/Swiss-Prot
      P20933
      Conserved Domains (1) summary
      cd04513
      Location:29322
      Glycosylasparaginase; Glycosylasparaginase and similar proteins

    RNA

    1. NR_033655.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA490958, AC027627, AC078881, CX869892, DA346002

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      177430774..177442503 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001741155.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      178328375..178340109 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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