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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
  • N(4)-(Beta-N-Acetylglucosaminyl)-L-Asparaginase 2 3
  • EC 3.5.1.26 4 56
  • Aspartylglucosylamine Deaspartylase 3
  • EC 3.5.1 56
  • 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 Innate Immune System 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 for AGA Gene

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

Gene Wiki entry for AGA Gene

Additional gene information for AGA Gene

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

Genomics for AGA Gene

GeneHancer (GH) Regulatory Elements for AGA Gene

Promoters and enhancers for AGA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I177440 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 605.6 +0.4 445 3 HDGF PKNOX1 CLOCK FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 AGA GC04M177439 GC04M177438
GH04I177483 Enhancer 0.8 Ensembl ENCODE 8.9 -42.4 -42380 3 SOX5 JUN HLF CEBPB JUND POLR2A FOS FOSL2 AGA GC04P177490 GC04M177459 LOC285500
GH04I177444 Enhancer 0.4 ENCODE 14.7 -2.5 -2540 0.7 KLF1 ZBTB33 LOC285500 AGA GC04M177453
GH04I177480 Enhancer 0.2 ENCODE 11.7 -38.6 -38587 1.1 AGA LOC285500 ENSG00000249008 GC04M177459 GC04P177490
GH04I177393 Enhancer 0.2 ENCODE 11.7 +49.1 49141 0.2 AGA LOC285500 ENSG00000249008 GC04P177409 GC04P177410 GC04P177411 PIR43451 LOC105377558
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AGA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AGA gene promoter:

Genomic Locations for AGA Gene

Genomic Locations for AGA Gene
chr4:177,430,770-177,442,503
(GRCh38/hg38)
Size:
11,734 bases
Orientation:
Minus strand
chr4:178,351,924-178,363,657
(GRCh37/hg19)

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.
  • Glycosylation at Asn38 and Asn308
  • Modification sites at PhosphoSitePlus

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
  • Predicted secreted proteins

Protein Domains for AGA Gene

Suggested Antigen Peptide Sequences for AGA Gene

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

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

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 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:

Animal Model Products

miRNA for AGA Gene

miRTarBase miRNAs that target AGA

Clone Products

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
nucleus 3
cytoskeleton 2
mitochondrion 2
cytosol 2
peroxisome 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:0005764 lysosome IDA,IEA 8776587
GO:0005783 endoplasmic reticulum IDA 8776587
GO:0035578 azurophil granule lumen TAS --
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 --
GO:0051604 protein maturation IEA --
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 2430
Water Approved Pharma 0
L-Aspartic acid Approved Nutra 0
Micronutrients Pharma 6397
Pharmaceutical Solutions Pharma 9000

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

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

Unigene Clusters for AGA Gene

Aspartylglucosaminidase:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for AGA Gene



Protein tissue co-expression partners for AGA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AGA Gene:

AGA

SOURCE GeneReport for Unigene cluster for AGA Gene:

Hs.207776

Evidence on tissue expression from TISSUES for AGA Gene

  • Liver(4.4)
  • Nervous system(3.4)

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 34 33
  • 99.33 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AGA 33 34
  • 85.57 (n)
rat
(Rattus norvegicus)
Mammalia Aga 33
  • 84.73 (n)
mouse
(Mus musculus)
Mammalia Aga 33 16 34
  • 84.3 (n)
cow
(Bos Taurus)
Mammalia AGA 33 34
  • 83.6 (n)
oppossum
(Monodelphis domestica)
Mammalia AGA 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AGA 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGA 34 33
  • 71.26 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AGA 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aga 33
  • 67.91 (n)
Str.19528 33
zebrafish
(Danio rerio)
Actinopterygii aga 34 33
  • 66.35 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1827 35 33 34
  • 57.1 (n)
CG10474 35 34
  • 50 (a)
CG4372 35 34
  • 37 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012301 33
  • 54.1 (n)
worm
(Caenorhabditis elegans)
Secernentea R04B3.2 35 33 34
  • 56.95 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G61540 33
  • 56.97 (n)
rice
(Oryza sativa)
Liliopsida Os04g0549300 33
  • 56.81 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9637 34
  • 53 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3930 33
Species where no ortholog for AGA was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1054938291 likely-pathogenic, Aspartylglycosaminuria 177,442,375(-) T/C initiator_codon_variant, missense_variant, non_coding_transcript_variant
rs1057516565 likely-pathogenic, Aspartylglycosaminuria 177,442,248(-) C/T splice_donor_variant
rs1057517062 likely-pathogenic, Aspartylglycosaminuria 177,442,348(-) G/ coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1057517175 likely-pathogenic, Aspartylglycosaminuria 177,436,275(-) C/A intron_variant, splice_donor_variant
rs1057517223 likely-pathogenic, Aspartylglycosaminuria 177,439,637(-) A/ coding_sequence_variant, frameshift, non_coding_transcript_variant

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

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

Disorder Aliases PubMed IDs
aspartylglucosaminuria
  • agu
lysosomal storage disease
  • disorder of lysosomal enzyme
fabry disease
  • angiokeratoma corporis diffusum
fucosidosis
  • alpha-l-fucosidase deficiency
galactosemia
  • galactose-1-phosphate uridylyltransferase deficiency
- 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 22 58
  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 22 58
  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 22 58
  4. Three-dimensional structure of human lysosomal aspartylglucosaminidase. (PMID: 8846222) Oinonen C … Peltonen L (Nature structural biology 1995) 3 4 22 58
  5. Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. (PMID: 1703489) Ikonen E … Peltonen L (The EMBO journal 1991) 3 4 22 58

Products for AGA Gene

Sources for AGA Gene

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