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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AGA Gene

protein-coding   GIFtS: 64
GCID: GC04M178351

Aspartylglucosaminidase

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 4

Aliases
aspartylglucosaminidase1 2     ASRG2
Aspartylglucosaminidase3     GA2
glycosylasparaginase1 2     N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase2
N4-(N-Acetyl-Beta-Glucosaminyl)-L-Asparagine Amidase2 3     Aspartylglucosylamine Deaspartylase2
EC 3.5.1.263 8     Glycosylasparaginase3
AGU2     EC 3.5.18

External Ids:    HGNC: 3181   Entrez Gene: 1752   Ensembl: ENSG000000380027   OMIM: 6132285   UniProtKB: P209333   
ORGUL members:    fRNAdb10:FR217788 FR044001 FR335849      
H-InvDB12:HIT000196525 HIT000323361 HIT000195964    
NCBI13:M83247 X73071 M60809    
NONCODE14:n409303      
RNAdb15:HIV1358 HIV1369 HIV1347    

Export aliases for AGA gene to outside databases

Previous GC identifers: GC04M179239 GC04M178901 GC04M179047 GC04M178727 GC04M178588 GC04M174102


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and is affiliated with the lncRNA class. Diseases associated with AGA include aspartylglucosaminuria, and lysosomal storage disease. GO annotations related to this gene include peptidase activity and N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity. An important paralog of this gene is ASRGL1.

UniProtKB/Swiss-Prot: ASPG_HUMAN, P20933
Function: Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked
glycoproteins

Gene Wiki entry for AGA (Aspartylglucosaminidase) Gene

fRNAdb sequence ontology for AGA:
ncRNA - An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product.

View fRNAdb secondary structures for AGA

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.2  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AGA gene promoter:
         ER-alpha   p53   POU6F1 (c2)   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   Cdc5   POU3F2   IRF-7A   Chx10   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAGA promoter sequence
   Search SABiosciences Chromatin IP Primers for AGA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AGA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q34.3   Ensembl cytogenetic band:  4q34.3   HGNC cytogenetic band: 4q34.3

AGA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AGA gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M178351:  view genomic region     (about GC identifiers)

Start:
178,351,924 bp from pter      End:
178,363,657 bp from pter
Size:
11,734 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for AGA

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ASPG_HUMAN, P20933 (See protein sequence)
Recommended Name: N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase precursor  
Size: 346 amino acids; 37208 Da
Subunit: Heterotetramer of two alpha and two beta chains arranged as a dimer of alpha/beta heterodimers
Subcellular location: Lysosome
2 PDB 3D structures from and Proteopedia for AGA:
1APY (3D)        1APZ (3D)    
Secondary accessions: B2R7H2 D3DP47 Q4W5Q2 Q6FHN6 Q9UCK6 Q9UCK7 Q9UCK8

Explore the universe of human proteins at neXtProt for AGA: NX_P20933

Explore proteomics data for AGA at MOPED 

Post-translational modifications:

  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P20933

  • 4 DME Specific Peptides for AGA (P20933)
     AAGTSTNG  FFGAVICA  GSALDAVE  PDPSKYCGPYKP 

    AGA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AGA Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000018.2  NP_001165459.1  

    ENSEMBL proteins: 
     ENSP00000264595   ENSP00000423798   ENSP00000421471  

    Human Recombinant Protein Products for AGA: 
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    Novus Biologicals AGA Proteins
    Novus Biologicals AGA Lysates
    Sino Biological Recombinant Protein for AGA
    Sino Biological Cell Lysate for AGA 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AGA 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IDA8776587
    GO:0005783endoplasmic reticulum IDA8776587

    AGA for ontologies           About GeneDecksing



    AGA Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for AGA 

    Assay Products for AGA: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for AGA 
    Cloud-Clone Corp. CLIAs for AGA


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR000246 Peptidase_T2

    Graphical View of Domain Structure for InterPro Entry P20933

    ProtoNet protein and cluster: P20933

    1 Blocks protein domain: IPB000246 Asparaginase 2 family

    UniProtKB/Swiss-Prot: ASPG_HUMAN, P20933
    Similarity: Belongs to the Ntn-hydrolase family


    AGA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ASPG_HUMAN, P20933
    Function: Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked
    glycoproteins
    Catalytic activity: N(4)-(beta-N-acetyl-D-glucosaminyl)-L-asparagine + H(2)O = N-acetyl-beta-D-glucosaminylamine +
    L-aspartate

         Genatlas biochemistry entry for AGA:
    aspartyl-N-acetylglucosaminidase,lysosomal,involved in stepwise degradation of complex type of oligosaccharide
    structure (glycoprotein catabolism)

         Enzyme Numbers (IUBMB): EC 3.5.1.261 2 EC 3.5.12

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003948N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity IMP1904874
    GO:0008233peptidase activity IEA--
    GO:0016787hydrolase activity ----
    GO:0043621protein self-association IEA--
         
    AGA for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Aga):
     behavior/neurological  cellular  growth/size  homeostasis/metabolism  integument 
     liver/biliary system  mortality/aging  nervous system  renal/urinary system 

    AGA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for AGA: Agatm1Pltn Agatm1Vk

       inGenious Targeting Laboratory - Custom generated mouse model solutions for AGA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AGA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AGA 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AGA 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AGA
    1 QIAGEN miScript miRNA Assays for microRNA that regulate AGA:
    hsa-miR-34a*
    SwitchGear 3'UTR luciferase reporter plasmidAGA 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for AGA
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of AGA

    Clone
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    Sino Biological Human cDNA Clone for AGA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AGA
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                         Customized lentivirus expression plasmids for stable overexpression of AGA 

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    Search LifeMap BioReagents cell lines for AGA
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGA


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AGA About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Other glycan degradation
    Other glycan degradation
    2Lysosome
    Lysosome
    3Integrated Pancreatic Cancer Pathway
    Integrated Pancreatic Cancer Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for AGA
        Integrated Pancreatic Cancer Pathway



    2         Kegg Pathways  (Kegg details for AGA):
        Other glycan degradation
    Lysosome


    AGA for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AGA

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for AGA (P209333 ENSP000002645954) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALBP027683, ENSP000002958974I2D: score=1 STRING: ENSP00000295897
    MTUS2Q5JR593I2D: score=1 
    IGF2RENSP000003494374STRING: ENSP00000349437
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0006517protein deglycosylation IMP1904874
    GO:0051604protein maturation IEA--

    AGA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AGA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AGA (ASPG)

    1 HMDB Compound for AGA    About this table
    CompoundSynonyms CAS #PubMed Ids
    N-Acetyl-b-glucosaminylamineN-acetyl-beta-glucosaminylamine (see all 5)----

    10 Novoseek inferred chemical compound relationships for AGA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aspartylglucosamine 97.3 11 10657992 (3), 7896015 (2), 11437347 (2), 9425233 (1) (see all 5)
    7-amino-4-methylcoumarin 70.2 1 8131272 (1)
    asparagine 70.1 10 9257709 (2), 8638940 (1), 11697047 (1), 8670796 (1) (see all 8)
    mannose 6-phosphate 57.9 2 7710687 (1), 11309371 (1)
    n-acetylglucosamine 55.5 4 9134428 (2), 11697047 (1), 12945771 (1)
    aspartate 39.6 7 8561787 (1), 9257709 (1), 11697047 (1), 12906830 (1) (see all 6)
    threonine 18.8 1 7493989 (1)
    amide 6.8 2 8670796 (1)
    hydrogen 0 1 11697047 (1)
    cysteine 0 1 8702913 (1)

    Search CenterWatch for drugs/clinical trials and news about AGA / ASPG

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    3 fRNAdb Secondary structures:


    REFSEQ mRNAs for AGA gene (2 alternative transcripts): 
    NM_000027.3  NM_001171988.1  

    Unigene Cluster for AGA:

    Aspartylglucosaminidase
    Hs.207776  [show with all ESTs]
    Unigene Representative Sequence: NM_000027
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264595(uc010irt.2 uc003iuw.3 uc003iuu.2 uc003iuv.2)
    ENST00000502310 ENST00000506853 ENST00000510635 ENST00000510955 ENST00000511231


    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AGA
    1 QIAGEN miScript miRNA Assays for microRNA that regulate AGA:
    hsa-miR-34a*
    SwitchGear 3'UTR luciferase reporter plasmidAGA 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for AGA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AGA
    Clone
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    OriGene clones in human, mouse for AGA (see all 13)
    OriGene ORF clones in mouse, rat for AGA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): AGA (NM_001171988)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AGA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AGA
    Sirion Biotech Customized lentivirus for stable overexpression of AGA 
                         Customized lentivirus expression plasmids for stable overexpression of AGA 
    Primer
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    OriGene qPCR primer pairs and template standards for AGA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AGA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AGA

    Additional mRNA sequence: 

    AK312982.1 BC012392.1 CR541715.1 M64073.1 M64075.1 M64076.1 NR_033655.1 X55762.1 

    7 DOTS entries:

    DT.100885632  DT.95275744  DT.454406  DT.100717962  DT.100839462  DT.121242410  DT.86855405 

    24/151 AceView cDNA sequences (see all 151):

    CA866926 CR599662 AA934960 X55762 AA694437 AA612630 AU102284 BQ678565 
    AL541732 BM968469 AA808440 AI249334 NM_000027 BI492923 AI208111 BM128744 
    AA490958 AA830177 BC012392 AI422721 BQ021216 AI554454 R72396 BF514028 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for AGA    About this scheme

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


    ECgene alternative splicing isoforms for AGA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AGA expression in normal human tissues (normalized intensities)      AGA embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTCTAAAG
    AGA Expression
    About this image


    AGA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Horizontal Cells Inner Nuclear Layer
     
     Hair
             hair follicle sub-bulge   
     
     Uterus (Reproductive System)
             CERVIX   
     
     Blood (Hematopoietic System)
             plasma cells   
     
     Dermis (Integumentary System)
             hair follicle sub-bulge   

    See AGA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AGA

    SOURCE GeneReport for Unigene cluster: Hs.207776
        SABiosciences Expression via Pathway-Focused PCR Array including AGA: 
              Glycosylation in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AGA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AGA gene from 9/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aga1 , 5 aspartylglucosaminidase1, 5 84.3(n)1
    82.37(a)1
      8 (29.13 cM)5
    115931  NM_001005847.21  NP_001005847.11 
     535117025 
    chicken
    (Gallus gallus)
    Aves AGA1 aspartylglucosaminidase 69.86(n)
    67.66(a)
      422558  NM_001006445.1  NP_001006445.1 
    lizard
    (Anolis carolinensis)
    Reptilia AGA6
    RAB1A6
    Uncharacterized protein
    64(a)
    35(a)
    1 ↔ 1
    possible ortholog
    5(116893464-116911539)
    1(124468477-124520284)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.195282 Transcribed sequence with weak similarity to protein more 74.16(n)    BX780396.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aga1 aspartylglucosaminidase 64.75(n)
    64.85(a)
      566517  NM_001110281.1  NP_001103751.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG18271 , 3
    N4-(beta-N-acetylglucosaminyl)-L-asparaginase3
    CG18271
    55(a)
    (best of 3)3
    57.1(n)1
    57.73(a)1
      45F53
    359891  NM_136660.21  NP_610504.31 
    worm
    (Caenorhabditis elegans)
    Secernentea R04B3.21 , 3 glycosylasparaginase3
    Protein R04B3.21
    48(a)3
    55.91(n)1
    51.27(a)1
      X(2506895-2508886)3
    1805501  NM_076047.31  NP_508448.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G615401 Isoaspartyl peptidase/L-asparaginase 3 subunit beta 56.1(n)
    49.54(a)
      836275  NM_125547.3  NP_200962.2 
    rice
    (Oryza sativa)
    Liliopsida AK063296.12   -- 70.93(n)    AK063296.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AGA gene
    ASRGL12  TASP12  

    AGA for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/397 SNPs in AGA are shown (see all 397)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0050714
    Aspartylglucosaminuria (AGU)4--see VAR_0050712 A V mis40--------
    VAR_0050754
    Aspartylglucosaminuria (AGU)4--see VAR_0050752 C R mis40--------
    VAR_0050704
    Aspartylglucosaminuria (AGU)4--see VAR_0050702 S P mis40--------
    VAR_0050694
    Aspartylglucosaminuria (AGU)4--see VAR_0050692 G D mis40--------
    VAR_0154324
    Aspartylglucosaminuria (AGU)4--see VAR_0154322 T I mis40--------
    VAR_0050744
    Aspartylglucosaminuria (AGU)4--see VAR_0050742 G R mis40--------
    VAR_0154304
    Aspartylglucosaminuria (AGU)4--see VAR_0154302 G E mis40--------
    VAR_0154294
    Aspartylglucosaminuria (AGU)4--see VAR_0154292 F S mis40--------
    VAR_0154314
    Aspartylglucosaminuria (AGU)4--see VAR_0154312 G R mis40--------
    VAR_0154284
    Aspartylglucosaminuria (AGU)4--see VAR_0154282 G E mis40--------

    HapMap Linkage Disequilibrium report for AGA (178351924 - 178363657 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for AGA:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2728772CNV Deletion23290073
    nsv880923CNV Loss21882294
    dgv1719e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): AGA
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing AGA
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613228OMIM information: 601519 603663 605480 609456 208400    
    OMIM disorders: 208400  
    UniProtKB/Swiss-Prot: ASPG_HUMAN, P20933
  • 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 20 diseases for AGA:    About MalaCards
    aspartylglucosaminuria    lysosomal storage disease    congenital disorder of glycosylation type i    angiokeratoma
    fucosidosis    rubella    galactosemia    neuronal ceroid lipofuscinosis
    metabolic disorders    congenital disorder of glycosylation    intellectual disability    periodontal disease
    periodontitis    herpes simplex    mental retardation    influenza
    schizophrenia    pancreatic cancer    neuronitis    pancreatitis

    3 diseases from the University of Copenhagen DISEASES database for AGA:
    Aspartylglucosaminuria     Fucosidosis     Intellectual disability

    AGA for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    6 Novoseek inferred disease relationships for AGA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lysosomal storage diseases 89.3 30 9930336 (1), 1577713 (1), 15365992 (1), 8322015 (1) (see all 17)
    mental retardation 49.3 4 9930336 (1), 10444340 (1), 8312372 (1)
    enzyme deficiency 38.6 1 7548272 (1)
    neurodegeneration 23.2 1 14616088 (1)
    metabolic disorder 4.65 2 7627186 (1), 1477657 (1)
    genetic disorder 3.66 1 9685368 (1)

    Genatlas disease: AGA
    aspartylglucosaminuria

    Genetic Association Database (GAD): AGA

    Export disorders for AGA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AGA gene, integrated from 9 sources (see all 128):
    (articles sorted by number of sources associating them with AGA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. (PubMed id 11309371)1, 2, 9 Saarela J....Peltonen L. (2001)
    2. Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. (PubMed id 1703489)1, 2, 9 Ikonen E.... Peltonen L. (1991)
    3. Ser72-->Pro active-site disease mutation in human lysosomal aspartylglucosaminidase: abnormal intracellular processing and evidence for extracellular activation. (PubMed id 8776587)1, 2, 9 Peltola M.... Jalanko A. (1996)
    4. 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. (PubMed id 1904874)1, 2, 9 Fisher K.J. and Aronson N.N. Jr. (1991)
    5. Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation. (PubMed id 9137882)1, 2, 9 Laitinen A.... Aula P. (1997)
    6. Cloning and sequence analysis of a cDNA for human glycosylasparaginase. A single gene encodes the subunits of this lysosomal amidase. (PubMed id 2265705)1, 2, 9 Fisher K.J....Aronson N.N. (1990)
    7. Cloning and sequence analysis of a cDNA for human glycosylasparaginase. A single gene encodes the subunits of this lysosomal amidase. (PubMed id 2401370)1, 2, 9 Fisher K.J.... Aronson N.N. Jr. (1990)
    8. Three-dimensional structure of human lysosomal aspartylglucosaminidase. (PubMed id 8846222)1, 2, 9 Oinonen C.... Peltonen L. (1995)
    9. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 175 HGNC: 318 AceView: AGA Ensembl:ENSG00000038002 euGenes: HUgn175
    ECgene: AGA Kegg: 175 H-InvDB: AGA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AGA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AGA Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AGA

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AGA gene:
    Search GeneIP for patents involving AGA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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