Format

Send to:

Choose Destination
    • Showing Current items.

    AGA aspartylglucosaminidase [ Homo sapiens (human) ]

    Gene ID: 175, updated on 8-Jul-2021

    Summary

    Official Symbol
    AGAprovided by HGNC
    Official Full Name
    aspartylglucosaminidaseprovided by HGNC
    Primary source
    HGNC:HGNC:318
    See related
    Ensembl:ENSG00000038002 MIM:613228
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See AGA in Genome Data Viewer
    Location:
    4q34.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (177430774..177442469, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (178351928..178363591, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377558 Neighboring gene nei like DNA glycosylase 3 Neighboring gene Sharpr-MPRA regulatory region 1546 Neighboring gene RNA, 5S ribosomal pseudogene 172 Neighboring gene AGA divergent transcript Neighboring gene uncharacterized LOC105377559

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Aspartylglucosaminuria
    MedGen: C0268225 OMIM: 208400 GeneReviews: Not available
    Compare labs
    Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.
    GeneReviews: Not available
    Genome-wide association study of serum selenium concentrations.
    GeneReviews: Not available
    No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein self-association IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in protein deglycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein deglycosylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein deglycosylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    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.

    Genomic

    1. NG_011845.2 RefSeqGene

      Range
      5067..16730
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000027.4NP_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, ENST00000264595.7
      Conserved Domains (1) summary
      cd04513
      Location:29332
      Glycosylasparaginase; Glycosylasparaginase and similar proteins
    2. NM_001171988.2NP_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_033655.2 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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      177430774..177442469 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001741155.2 RNA Sequence

    Support Center