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Aliases for AGA Gene

Aliases for AGA Gene

  • Aspartylglucosaminidase 2 3 4
  • Glycosylasparaginase 2 3 4
  • N4-(N-Acetyl-Beta-Glucosaminyl)-L-Asparagine Amidase 3 4
  • N(4)-(Beta-N-Acetylglucosaminyl)-L-Asparaginase 2 3
  • EC 3.5.1.26 4 63
  • 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

  • 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]

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 peptidase activity and N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AGA Gene

Start:
177,430,770 bp from pter
End:
177,442,503 bp from pter
Size:
11,734 bases
Orientation:
Minus strand

Genomic View for AGA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P20933-ASPG_HUMAN
    Recommended name:
    N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase
    Protein Accession:
    P20933
    Secondary Accessions:
    • B2R7H2
    • D3DP47
    • Q4W5Q2
    • Q6FHN6
    • Q9UCK6
    • Q9UCK7
    • Q9UCK8

    Protein attributes for AGA Gene

    Size:
    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 Asn38 and Asn308
  • Modification sites at PhosphoSitePlus

Other Protein References for AGA Gene

Domains for AGA Gene

Protein Domains for AGA Gene

Suggested Antigen Peptide Sequences for AGA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P20933

UniProtKB/Swiss-Prot:

ASPG_HUMAN :
  • P20933
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:0003948 N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity IMP 1904874
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity --
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

Animal Models for AGA Gene

MGI Knock Outs for AGA:

Animal Model Products

CRISPR Products

miRNA for AGA Gene

miRTarBase miRNAs that target AGA

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AGA

In Situ Assay Products

Flow Cytometry Products

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

Localization for AGA Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGA Gene

Lysosome.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for AGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA 8776587
GO:0005783 endoplasmic reticulum IDA 8776587
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with AGA: view

Pathways for AGA Gene

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

Pathways by source for AGA Gene

1 BioSystems pathway for AGA Gene
2 KEGG pathways for AGA Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for AGA Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000264595%0d%0a9606.ENSP00000349437%0d%0a9606.ENSP00000313432%0d%0a9606.ENSP00000295897%0d%0a
Selected Interacting proteins: ENSP00000264595 P20933-ASPG_HUMAN for AGA Gene via STRING I2D

Gene Ontology (GO) - Biological Process for AGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006517 protein deglycosylation IMP 1904874
GO:0008152 metabolic process --
GO:0051604 protein maturation IEA --
genes like me logo Genes that share ontologies with AGA: view

Compounds for AGA Gene

(1) HMDB Compounds for AGA Gene

Compound Synonyms Cas Number PubMed IDs
N-Acetyl-b-glucosaminylamine
  • N-acetyl-beta-glucosaminylamine
Not Available

(10) Novoseek inferred chemical compound relationships for AGA Gene

Compound -log(P) Hits PubMed IDs
aspartylglucosamine 97.3 9
7-amino-4-methylcoumarin 70.2 1
asparagine 70.1 9
mannose 6-phosphate 57.9 2
n-acetylglucosamine 55.5 4
genes like me logo Genes that share compounds with AGA: view

Transcripts for AGA Gene

Unigene Clusters for AGA Gene

Aspartylglucosaminidase:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AGA

Primer Products

Flow Cytometry Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2: -

Relevant External Links for AGA Gene

GeneLoc Exon Structure for
AGA
ECgene alternative splicing isoforms for
AGA

Expression for AGA Gene

mRNA expression in normal human tissues for AGA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with AGA: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia AGA 35
  • 99.33 (n)
  • 99.42 (a)
AGA 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AGA 35
  • 83.6 (n)
  • 83.6 (a)
AGA 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AGA 35
  • 85.57 (n)
  • 86.29 (a)
AGA 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aga 35
  • 84.3 (n)
  • 82.37 (a)
Aga 16
Aga 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AGA 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AGA 36
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aga 35
  • 84.73 (n)
  • 82.32 (a)
chicken
(Gallus gallus)
Aves AGA 35
  • 71.26 (n)
  • 69.91 (a)
AGA 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AGA 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aga 35
  • 67.91 (n)
  • 68.85 (a)
Str.19528 35
zebrafish
(Danio rerio)
Actinopterygii aga 35
  • 66.35 (n)
  • 66.67 (a)
aga 36
  • 63 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012301 35
  • 54.1 (n)
  • 57.91 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10474 36
  • 48 (a)
OneToMany
CG1827 35
  • 57.1 (n)
  • 57.73 (a)
CG1827 36
  • 48 (a)
OneToMany
CG4372 36
  • 33 (a)
OneToMany
CG4372 37
  • 37 (a)
CG10474 37
  • 50 (a)
CG1827 37
  • 55 (a)
worm
(Caenorhabditis elegans)
Secernentea R04B3.2 35
  • 56.95 (n)
  • 52.88 (a)
R04B3.2 36
  • 45 (a)
OneToOne
R04B3.2 37
  • 48 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G61540 35
  • 56.97 (n)
  • 51.31 (a)
rice
(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)
OneToOne
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

ENSEMBL:
Gene Tree for AGA (if available)
TreeFam:
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 MAF
rs1061814 -- 177,431,525(-) TATTT(A/C)ACCTT utr-variant-3-prime, nc-transcript-variant
rs1105059 -- 177,435,307(+) ACATA(C/T)ACATA intron-variant
rs1138833 -- 177,442,314(-) CCTAG(C/T)GCGCT missense, reference, nc-transcript-variant
rs2228119 Benign, - 177,438,806(-) TACCA(C/G)TGCTT reference, missense, nc-transcript-variant
rs2271100 -- 177,438,525(+) AACTA(C/T)TGTGA intron-variant

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

Relevant External Links for AGA Gene

HapMap Linkage Disequilibrium report
AGA
Human Gene Mutation Database (HGMD)
AGA

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

Disorders for AGA Gene

MalaCards: The human disease database

MalaCards: The human disease database. (6) Diseases for AGA Gene including...

Search for AGA Gene in MalaCards »

(1) OMIM Diseases for AGA Gene (613228)

UniProtKB/Swiss-Prot

ASPG_HUMAN
  • 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.

(3) University of Copenhagen DISEASES for AGA Gene

(6) Novoseek inferred disease relationships for AGA Gene

Disease -log(P) Hits PubMed IDs
lysosomal storage diseases 89.3 17
mental retardation 49.3 3
enzyme deficiency 38.6 1
neurodegeneration 23.2 1
metabolic disorder 4.65 2

Genatlas disease for AGA Gene

aspartylglucosaminuria

Relevant External Links for AGA

Genetic Association Database (GAD)
AGA
genes like me logo Genes that share disorders with AGA: view

Publications for AGA Gene

  1. Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. (PMID: 1703489) Ikonen E. … Peltonen L. (EMBO J. 1991) 3 4 23
  2. Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163-->Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits. (PMID: 1904874) Fisher K.J. … Aronson N.N. Jr. (J. Biol. Chem. 1991) 3 4 23
  3. Cloning and sequence analysis of a cDNA for human glycosylasparaginase. A single gene encodes the subunits of this lysosomal amidase. (PMID: 2265705) Fisher K.J. … Aronson N.N. (FEBS Lett. 1990) 3 4 23
  4. Cloning and sequence analysis of a cDNA for human glycosylasparaginase. A single gene encodes the subunits of this lysosomal amidase. (PMID: 2401370) Fisher K.J. … Aronson N.N. Jr. (FEBS Lett. 1990) 3 4 23
  5. Ser72-->Pro active-site disease mutation in human lysosomal aspartylglucosaminidase: abnormal intracellular processing and evidence for extracellular activation. (PMID: 8776587) Peltola M. … Jalanko A. (Hum. Mol. Genet. 1996) 3 4 23

Products for AGA Gene

Sources for AGA Gene

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