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Aliases for AGA Gene

Aliases for AGA Gene

  • Aspartylglucosaminidase 2 3 4 5
  • Glycosylasparaginase 2 3 4
  • N4-(N-Acetyl-Beta-Glucosaminyl)-L-Asparagine Amidase 3 4
  • EC 4 63
  • N(4)-(Beta-N-Acetylglucosaminyl)-L-Asparaginase 2
  • Aspartylglucosylamine Deaspartylase 3
  • EC 3.5.1 63
  • ASRG 3
  • AGU 3
  • GA 3

External Ids for AGA Gene

Previous GeneCards Identifiers for AGA Gene

  • GC04M179239
  • GC04M178901
  • GC04M179047
  • GC04M178727
  • GC04M178588
  • GC04M178351
  • GC04M174102

Summaries for AGA Gene

Entrez Gene Summary for AGA Gene

  • 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]

GeneCards Summary for AGA Gene

AGA (Aspartylglucosaminidase) is a Protein Coding gene. Diseases associated with AGA include Aspartylglucosaminuria and Lysosomal Storage Disease. Among its related pathways are Integrated Pancreatic Cancer Pathway and Lysosome. GO annotations related to this gene include hydrolase activity and protein self-association. An important paralog of this gene is TASP1.

UniProtKB/Swiss-Prot for AGA Gene

  • Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins.

Gene Wiki entry for AGA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGA Gene

Genomics for AGA Gene

Regulatory Elements for AGA Gene

Enhancers for AGA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AGA on UCSC Golden Path with GeneCards custom track

Promoters for AGA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AGA on UCSC Golden Path with GeneCards custom track

Genomic Location for AGA Gene

177,430,770 bp from pter
177,442,503 bp from pter
11,734 bases
Minus strand

Genomic View for AGA Gene

Genes around AGA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGA Gene

Proteins for AGA Gene

  • Protein details for AGA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B2R7H2
    • D3DP47
    • Q4W5Q2
    • Q6FHN6
    • Q9UCK6
    • Q9UCK7
    • Q9UCK8

    Protein attributes for AGA Gene

    346 amino acids
    Molecular mass:
    37208 Da
    Quaternary structure:
    • Heterotetramer of two alpha and two beta chains arranged as a dimer of alpha/beta heterodimers.

    Three dimensional structures from OCA and Proteopedia for AGA Gene

neXtProt entry for AGA Gene

Proteomics data for AGA Gene at MOPED

Selected DME Specific Peptides for AGA Gene

Post-translational modifications for AGA Gene

  • Cleaved into an alpha and beta chain by autocatalysis; this activates the enzyme. The N-terminal residue of the beta subunit is responsible for the nucleophile hydrolase activity.
  • Glycosylation at Asn 38 and Asn 308
  • Modification sites at PhosphoSitePlus

Other Protein References for AGA Gene

Domains & Families for AGA Gene

Protein Domains for AGA Gene

Suggested Antigen Peptide Sequences for AGA Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the Ntn-hydrolase family.
  • Belongs to the Ntn-hydrolase family.
genes like me logo Genes that share domains with AGA: view

No data available for Gene Families for AGA Gene

Function for AGA Gene

Molecular function for AGA Gene

GENATLAS Biochemistry:
aspartyl-N-acetylglucosaminidase,lysosomal,involved in stepwise degradation of complex type of oligosaccharide structure (glycoprotein catabolism)
UniProtKB/Swiss-Prot CatalyticActivity:
N(4)-(beta-N-acetyl-D-glucosaminyl)-L-asparagine + H(2)O = N-acetyl-beta-D-glucosaminylamine + L-aspartate.
UniProtKB/Swiss-Prot Function:
Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins.

Enzyme Numbers (IUBMB) for AGA Gene

Gene Ontology (GO) - Molecular Function for AGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043621 protein self-association IEA --
genes like me logo Genes that share ontologies with AGA: view
genes like me logo Genes that share phenotypes with AGA: view

Human Phenotype Ontology for AGA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AGA Gene

MGI Knock Outs for AGA:

Animal Model Products

miRNA for AGA Gene

miRTarBase miRNAs that target AGA

No data available for Transcription Factor Targets and HOMER Transcription for AGA Gene

Localization for AGA Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGA Gene


Subcellular locations from

Jensen Localization Image for AGA Gene COMPARTMENTS Subcellular localization image for AGA gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
lysosome 5
vacuole 5
nucleus 3
chloroplast 2
cytoskeleton 2
cytosol 2
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for AGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA,IDA 8776587
GO:0005783 endoplasmic reticulum IDA 8776587
genes like me logo Genes that share ontologies with AGA: view

Pathways & Interactions for AGA Gene

genes like me logo Genes that share pathways with AGA: view

Pathways by source for AGA Gene

2 KEGG pathways for AGA Gene

Interacting Proteins for AGA Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
Selected Interacting proteins: ENSP00000264595 P20933-ASPG_HUMAN for AGA Gene via STRING I2D

Gene Ontology (GO) - Biological Process for AGA Gene


No data available for SIGNOR curated interactions for AGA Gene

Drugs & Compounds for AGA Gene

(6) Drugs for AGA Gene - From: ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 2102
L-Aspartic acid Approved Nutra NMDA agonist 0
Pharmaceutical Solutions Pharma 7317

(9) Additional Compounds for AGA Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • N-Acetyl-b-D-glucosaminylamine
  • N-Acetyl-beta-D-glucosaminylamine
  • N-Acetyl-beta-delta-glucosaminylamine
  • N-Acetyl-beta-glucosaminylamine
  • N-[2-Amino-4,5-dihydroxy-6-(hydroxymethyl)oxan-3-yl]ethanamide
  • Dihydrogen oxide
  • Steam
genes like me logo Genes that share compounds with AGA: view

Transcripts for AGA Gene

Unigene Clusters for AGA Gene

Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AGA Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP2: -

Relevant External Links for AGA Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AGA Gene

mRNA expression in normal human tissues for AGA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AGA Gene

This gene is overexpressed in NK cells (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for AGA Gene

SOURCE GeneReport for Unigene cluster for AGA Gene Hs.207776

genes like me logo Genes that share expression patterns with AGA: view

Protein tissue co-expression partners for AGA Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AGA Gene

Orthologs for AGA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AGA Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia AGA 35
  • 83.6 (n)
  • 83.6 (a)
AGA 36
  • 80 (a)
(Canis familiaris)
Mammalia AGA 35
  • 85.57 (n)
  • 86.29 (a)
AGA 36
  • 84 (a)
(Mus musculus)
Mammalia Aga 35
  • 84.3 (n)
  • 82.37 (a)
Aga 16
Aga 36
  • 82 (a)
(Pan troglodytes)
Mammalia AGA 35
  • 99.33 (n)
  • 99.42 (a)
AGA 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Aga 35
  • 84.73 (n)
  • 82.32 (a)
(Monodelphis domestica)
Mammalia AGA 36
  • 69 (a)
(Ornithorhynchus anatinus)
Mammalia AGA 36
  • 68 (a)
(Gallus gallus)
Aves AGA 35
  • 71.26 (n)
  • 69.91 (a)
AGA 36
  • 66 (a)
(Anolis carolinensis)
Reptilia AGA 36
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aga 35
  • 67.91 (n)
  • 68.85 (a)
Str.19528 35
(Danio rerio)
Actinopterygii aga 35
  • 66.35 (n)
  • 66.67 (a)
aga 36
  • 63 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10474 37
  • 50 (a)
CG1827 37
  • 55 (a)
CG4372 37
  • 37 (a)
CG1827 35
  • 57.1 (n)
  • 57.73 (a)
CG10474 36
  • 48 (a)
CG1827 36
  • 48 (a)
CG4372 36
  • 33 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012301 35
  • 54.1 (n)
  • 57.91 (a)
(Caenorhabditis elegans)
Secernentea R04B3.2 37
  • 48 (a)
R04B3.2 35
  • 56.95 (n)
  • 52.88 (a)
R04B3.2 36
  • 45 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G61540 35
  • 56.97 (n)
  • 51.31 (a)
(Oryza sativa)
Liliopsida Os04g0549300 35
  • 56.81 (n)
  • 56.48 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3930 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9637 36
  • 53 (a)
Species with no ortholog for AGA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AGA Gene

Gene Tree for AGA (if available)
Gene Tree for AGA (if available)

Paralogs for AGA Gene

Paralogs for AGA Gene

genes like me logo Genes that share paralogs with AGA: view

Variants for AGA Gene

Sequence variations from dbSNP and Humsavar for AGA Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_005069 Aspartylglucosaminuria (AGU)
VAR_005070 Aspartylglucosaminuria (AGU)
VAR_005071 Aspartylglucosaminuria (AGU)
rs192195150 Aspartylglucosaminuria (AGU) 177,438,770(+) AATTC(C/T)GAGCA nc-transcript-variant, reference, missense
rs121964904 Aspartylglucosaminuria (AGU) 177,438,764(-) GAATT(C/G)CCAGC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for AGA Gene

Variant ID Type Subtype PubMed ID
esv2728772 CNV Deletion 23290073
dgv1719e1 CNV Complex 17122850
nsv880923 CNV Loss 21882294

Variation tolerance for AGA Gene

Residual Variation Intolerance Score: 75.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.55; 44.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AGA Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGA Gene

Disorders for AGA Gene

MalaCards: The human disease database

(3) MalaCards diseases for AGA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • aspartylglucosaminidase deficiency
lysosomal storage disease
  • disorder of lysosomal enzyme
  • angiokeratoma of skin
- elite association - COSMIC cancer census association via MalaCards
Search AGA in MalaCards View complete list of genes associated with diseases


  • Aspartylglucosaminuria (AGU) [MIM:208400]: An inborn lysosomal storage disease causing excess accumulation of glycoasparagine in the body tissues and its increased excretion in urine. Clinical features include mild to severe mental retardation manifesting from the age of two, coarse facial features and mild connective tissue abnormalities. {ECO:0000269 PubMed:11309371, ECO:0000269 PubMed:1703489, ECO:0000269 PubMed:1904874, ECO:0000269 PubMed:2011603, ECO:0000269 PubMed:8776587, ECO:0000269 PubMed:9137882}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for AGA Gene


Relevant External Links for AGA

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with AGA: view

Publications for AGA Gene

  1. Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. (PMID: 11309371) Saarela J. … Peltonen L. (Hum. Mol. Genet. 2001) 3 4 23 67
  2. Structural basis of aspartylglucosaminuria. (PMID: 18992224) Saito S. … Sakuraba H. (Biochem. Biophys. Res. Commun. 2008) 3 23
  3. Autoproteolytic activation of human aspartylglucosaminidase. (PMID: 14616088) Saarela J. … Peltonen L. (Biochem. J. 2004) 3 23
  4. A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase. (PMID: 15365992) Saarela J. … Jalanko A. (Hum. Mutat. 2004) 3 23
  5. Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during development. (PMID: 10444340) Uusitalo A. … Peltonen L. (Mol. Genet. Metab. 1999) 3 23

Products for AGA Gene

Sources for AGA Gene