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AGA aspartylglucosaminidase [ Homo sapiens (human) ]

Gene ID: 175, updated on 8-Jul-2018
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
See AGA in Genome Data Viewer
Location:
4q34.3
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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
Aspartylglucosaminuria
MedGen: C0268225 OMIM: 208400 GeneReviews: Not available
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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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
asparaginase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
beta-aspartyl-peptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hydrolase activity IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein deglycosylation IDA
Inferred from Direct Assay
more info
PubMed 
protein deglycosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein maturation IBA
Inferred from Biological aspect of Ancestor
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
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum 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 IBA
Inferred from Biological aspect of Ancestor
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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

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

RNA

  1. XR_001741155.2 RNA Sequence

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