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AGA aspartylglucosaminidase [ Homo sapiens (human) ]

Gene ID: 175, updated on 8-Feb-2015
Official Symbol
AGAprovided by HGNC
Official Full Name
aspartylglucosaminidaseprovided by HGNC
Primary source
HGNC:HGNC:318
See related
Ensembl:ENSG00000038002; HPRD:01949; 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
Aspartylglucosaminidase 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. The lysosomal storage disease aspartylglycosaminuria is caused by a deficiency in the AGA enzyme. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jan 2010]
Orthologs
See AGA in MapViewer
Location:
4q34.3
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 vascular endothelial growth factor C Neighboring gene nei endonuclease VIII-like 3 (E. coli) Neighboring gene long intergenic non-protein coding RNA 1098 Neighboring gene long intergenic non-protein coding RNA 1099 Neighboring gene ribosomal protein L19 pseudogene 8

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Aspartylglycosaminuria
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
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • 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...
  • 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...
  • asparagine degradation III (mammalian), conserved biosystem (from BIOCYC)
    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-...
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
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
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome 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
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase
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 proteins identical to 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, OTTHUMP00000218812, ENST00000264595, OTTHUMT00000361916
    Conserved Domains (1) summary
    cd04513
    Location:29331
    Glycosylasparaginase; Glycosylasparaginase catalyzes the hydrolysis of the glycosylamide bond of asparagine-linked glycoproteins. This enzyme is an amidase located inside lysosomes. Mutation of this gene in humans causes a genetic disorder known as aspartylglycosaminuria (AGU) ...
  2. NM_001171988.1NP_001165459.1  N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform 2 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses two alternate in-frame splice sites in the middle portion of the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC027627, AW467768, BC012392, BM968469, DA346002
    UniProtKB/Swiss-Prot
    P20933
    Conserved Domains (1) summary
    cd04513
    Location:29321
    Glycosylasparaginase; Glycosylasparaginase catalyzes the hydrolysis of the glycosylamide bond of asparagine-linked glycoproteins. This enzyme is an amidase located inside lysosomes. Mutation of this gene in humans causes a genetic disorder known as aspartylglycosaminuria (AGU) ...

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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006714123.1XP_006714186.1  

    Conserved Domains (1) summary
    cl00635
    Location:21225
    Ntn_Asparaginase_2_like; Ntn-hydrolase superfamily, L-Asparaginase type 2-like enzymes. This family includes Glycosylasparaginase, Taspase 1 and L-Asparaginase type 2 enzymes. Glycosylasparaginase catalyzes the hydrolysis of the glycosylamide bond of asparagine-linked ...

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

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

Alternate HuRef

Genomic

  1. AC_000136.1 Alternate HuRef

    Range
    174102201..174113937
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)