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... See more...

Aliases for AGA Gene

Aliases for AGA Gene

  • Aspartylglucosaminidase 2 3 4 5
  • N(4)-(Beta-N-Acetylglucosaminyl)-L-Asparaginase 2 3 4
  • Glycosylasparaginase 2 3 4
  • N4-(N-Acetyl-Beta-Glucosaminyl)-L-Asparagine Amidase 3 4
  • EC 3.5.1.26 4 51
  • ASRG 2 3
  • Aspartylglucosylamine Deaspartylase 3
  • EC 3.5.1 51
  • AGU 3
  • AGA 5
  • 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 Lysosome and Other glycan degradation. Gene Ontology (GO) annotations related to this gene include hydrolase activity and protein self-association. An important paralog of this gene is TASP1.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AGA Gene

Genomics for AGA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AGA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AGA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AGA

Top Transcription factor binding sites by QIAGEN in the AGA gene promoter:
  • Cdc5
  • Chx10
  • ER-alpha
  • IRF-7A
  • p53
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • POU6F1 (c2)

Genomic Locations for AGA Gene

Genomic Locations for AGA Gene
chr4:177,430,774-177,442,503
(GRCh38/hg38)
Size:
11,730 bases
Orientation:
Minus strand
chr4:178,351,924-178,363,657
(GRCh37/hg19)
Size:
11,734 bases
Orientation:
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:
    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

Selected DME Specific Peptides for AGA Gene

P20933:
  • PDPSKYCGPYKP
  • FFGAVICA
  • GSALDAVE
  • AAGTSTNG

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.
  • N-glycosylated.
  • Glycosylation at Asn38 and Asn308
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for AGA Gene

Domains & Families for AGA Gene

Gene Families for AGA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for AGA Gene

InterPro:
Blocks:
  • Asparaginase 2 family
ProtoNet:

Suggested Antigen Peptide Sequences for AGA Gene

GenScript: Design optimal peptide antigens:
  • N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase (ASPG_HUMAN)
  • Aspartylglycosaminuria (Q13726_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20933

UniProtKB/Swiss-Prot:

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

Function for AGA Gene

Molecular function for AGA Gene

UniProtKB/Swiss-Prot Function:
Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N(4)-(beta-N-acetyl-D-glucosaminyl)-L-asparagine = H(+) + L-aspartate + N-acetyl-beta-D-glucosaminylamine; Xref=Rhea:RHEA:11544, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15947, ChEBI:CHEBI:29991, ChEBI:CHEBI:58080; EC=3.5.1.26; Evidence={ECO:0000269|PubMed:1703489, ECO:0000269|PubMed:1904874, ECO:0000269|PubMed:2401370};.
GENATLAS Biochemistry:
aspartyl-N-acetylglucosaminidase,lysosomal,involved in stepwise degradation of complex type of oligosaccharide structure (glycoprotein catabolism)

Enzyme Numbers (IUBMB) for AGA Gene

Phenotypes From GWAS Catalog 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 IBA,IMP 1904874
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
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:
  • Aga Aga<tm1Pltn>
  • Aga Aga<tm1Vk>

Animal Model Products

CRISPR Products

miRNA for AGA Gene

miRTarBase miRNAs that target AGA

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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

Lysosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AGA gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
lysosome 5
cytoskeleton 3
nucleus 3
cytosol 3
plasma membrane 2
mitochondrion 2
peroxisome 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for AGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 25645918
GO:0005737 cytoplasm IBA 21873635
GO:0005764 lysosome IBA,IDA 8776587
GO:0005783 endoplasmic reticulum IDA 8776587
genes like me logo Genes that share ontologies with AGA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AGA Gene

Pathways & Interactions 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

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:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with AGA: view

No data available for SIGNOR curated interactions for AGA Gene

Drugs & Compounds for AGA Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma 1594
Water Approved Pharma 0
Aspartic acid Approved Nutra 182
Pharmaceutical Solutions Pharma 11855

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Acetyl-b-glucosaminylamine
  • 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
genes like me logo Genes that share compounds with AGA: view

Transcripts for AGA Gene

mRNA/cDNA for AGA Gene

2 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGA

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

Expression for AGA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for AGA Gene



Protein tissue co-expression partners for AGA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AGA

SOURCE GeneReport for Unigene cluster for AGA Gene:

Hs.207776

Evidence on tissue expression from TISSUES for AGA Gene

  • Liver(4.5)
  • Nervous system(3.7)
  • Lung(3)
  • Skin(2.8)
  • Kidney(2.7)
  • Blood(2.4)
  • Intestine(2.4)
  • Stomach(2.3)
  • Muscle(2.2)
  • Heart(2.2)
  • Bone marrow(2.1)
  • Spleen(2.1)
  • Lymph node(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AGA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • sinus
  • skull
  • thyroid
  • tongue
  • tooth
  • vocal cord
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
Pelvis:
  • pelvis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with AGA: view

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 30 31
  • 99.33 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia AGA 30 31
  • 85.57 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Aga 30
  • 84.73 (n)
Mouse
(Mus musculus)
Mammalia Aga 30 17 31
  • 84.3 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia AGA 30 31
  • 83.6 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia AGA 31
  • 69 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia AGA 31
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves AGA 30 31
  • 71.26 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AGA 31
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia aga 30
  • 67.91 (n)
Str.19528 30
Zebrafish
(Danio rerio)
Actinopterygii aga 30 31
  • 66.35 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG1827 30 31 32
  • 57.1 (n)
OneToMany
CG10474 31 32
  • 48 (a)
OneToMany
CG4372 31 32
  • 33 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012301 30
  • 54.1 (n)
Worm
(Caenorhabditis elegans)
Secernentea R04B3.2 30 31 32
  • 56.95 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G61540 30
  • 56.97 (n)
Rice
(Oryza sativa)
Liliopsida Os04g0549300 30
  • 56.81 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9637 31
  • 53 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3930 30
Species where no ortholog for AGA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for AGA: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AGA Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
638395 Uncertain Significance: Aspartylglucosaminuria 177,442,261(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
641051 Likely Pathogenic: Aspartylglucosaminuria 177,436,275(-) C/T SPLICE_DONOR_VARIANT,INTRON_VARIANT
648961 Uncertain Significance: Aspartylglucosaminuria 177,436,281(-) T/C MISSENSE_VARIANT,INTRON_VARIANT
650146 Uncertain Significance: Aspartylglucosaminuria 177,439,594(-) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
683240 Benign: not provided 177,439,322(-) C/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for AGA Gene

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

Variant ID Type Subtype PubMed ID
esv2728772 CNV deletion 23290073
esv2759304 CNV gain 17122850
esv3569840 CNV loss 25503493

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)

Additional Variant Information for AGA Gene

Human Gene Mutation Database (HGMD)
AGA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGA

SNP Genotyping and Copy Number Assay Products

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

Disorders for AGA Gene

MalaCards: The human disease database

(10) MalaCards diseases for AGA Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
aspartylglucosaminuria
  • agu
lysosomal storage disease
  • disorder of lysosomal enzyme
lysosomal disease
angiokeratoma
  • angiokeratoma of skin
contractural arachnodactyly, congenital
  • cca
- elite association - COSMIC cancer census association via MalaCards
Search AGA in MalaCards View complete list of genes associated with diseases

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.

Genatlas disease for AGA Gene

aspartylglucosaminuria

Additional Disease Information for AGA

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 (Human molecular genetics 2001) 3 4 23
  2. Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation. (PMID: 9137882) Laitinen A … Aula P (Clinical genetics 1997) 3 4 23
  3. Ser72Pro active-site disease mutation in human lysosomal aspartylglucosaminidase: abnormal intracellular processing and evidence for extracellular activation. (PMID: 8776587) Peltola M … Jalanko A (Human molecular genetics 1996) 3 4 23
  4. Three-dimensional structure of human lysosomal aspartylglucosaminidase. (PMID: 8846222) Oinonen C … Peltonen L (Nature structural biology 1995) 3 4 23
  5. Assignment of the aspartylglucosaminidase gene (AGA) to 4q33----q35 based on decreased activity in a girl with a 46,XX,del(4)(q33) karyotype. (PMID: 1505217) Engelen J … Poorthuis B (Cytogenetics and cell genetics 1992) 2 3 23

Products for AGA Gene

Sources for AGA Gene