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AGA Gene

protein-coding   GIFtS: 64
GCID: GC04M178351

Aspartylglucosaminidase

  See AGA-related diseases
at  

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

Export aliases for AGA gene to outside databases

Previous GC identifers: GC04M179239 GC04M178901 GC04M179047 GC04M178727 GC04M178588 GC04M174102


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


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   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 Chromatin IP Primers for AGA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • 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 activity1
  • Glycosylation2 at Asn38, Asn308
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for AGA (P20933)
     AAGTSTNG  FFGAVICA  GSALDAVE  PDPSKYCGPYKP 


    See AGA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000264595   ENSP00000423798   ENSP00000421471  

    AGA Human Recombinant Protein Products:

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    Novus Biologicals AGA Proteins
    Novus Biologicals AGA Lysates
    Sino Biological Recombinant Protein for AGA
    Sino Biological Cell Lysate for AGA
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    Cloud-Clone Corp. Proteins for AGA

     
    Search eBioscience for Proteins for AGA 

    AGA Antibody Products:

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    LSBio Antibodies in human, mouse, rat for AGA

    AGA Assay Products:

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    Browse Enzo Life Sciences for kits & assays
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    Cloud-Clone Corp. CLIAs for AGA
    Search eBioscience for ELISAs for AGA 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with AGA           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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--
         
    Find genes that share ontologies with AGA           About GenesLikeMe


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

    Find genes that share phenotypes with AGA           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AGA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target AGA:
    hsa-mir-150-5p (MIRT021212)

    Block miRNA regulation of human, mouse, rat AGA using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate AGA:
    hsa-miR-34a*
    SwitchGear 3'UTR luciferase reporter plasmidAGA 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for AGA
    Predesigned siRNA for gene silencing in human, mouse, rat AGA

    Gene Editing
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    Clone
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    Sino Biological Human cDNA Clone for AGA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AGA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AGA

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for AGA 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ASPG_HUMAN, P20933: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    lysosome5
    vacuole5
    chloroplast2
    extracellular2
    cytoskeleton1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with AGA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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


    Find genes that share SuperPaths with AGA           About GenesLikeMe

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including AGA: 
              Glycosylation in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network 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:    About this table

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

    Find genes that share ontologies with AGA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with AGA           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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    Block miRNA regulation of human, mouse, rat AGA using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate AGA:
    hsa-miR-34a*
    SwitchGear 3'UTR luciferase reporter plasmidAGA 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Predesigned siRNA for gene silencing in human, mouse, rat AGA
    Clone
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    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
    Primer
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    OriGene qPCR primer pairs and template standards for AGA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AGA
      QuantiTect SYBR Green Assays in human, mouse, rat AGA
      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 

    Selected AceView cDNA sequences (see all 151):

    AU100349 BM970584 CR592694 BM713961 BQ021216 X55762 BC012392 AA570301 
    AA934960 AU102285 AA694437 AU102284 AA830177 AI208111 AI554454 BQ678565 
    AA808440 CA450141 AA490958 AI249334 BI492923 AI422721 AL541732 AI453220 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AGA expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 7) fully expand
     
     Neurons
             Mature Horizontal Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Horizontal Cells Inner Nuclear Layer
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    AGA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AGA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.207776
        Pathway & Disease-focused RT2 Profiler PCR Array including AGA: 
              Glycosylation in human mouse rat

    Primer
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    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AGA gene from Selected species (see all 18)    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 71.26(n)
    69.91(a)
      422558  NM_001006445.1  NP_001006445.1 
    lizard
    (Anolis carolinensis)
    Reptilia AGA6
    aspartylglucosaminidase
    65(a)
    1 ↔ 1
    5(116893464-116911539)
    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 66.35(n)
    66.67(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
    R04B3.21
    48(a)3
    56.95(n)1
    52.88(a)1
      X(2506895-2508886)3
    1805501  NM_076047.41  NP_508448.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G615401 AT5G61540 56.97(n)
    51.31(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)
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    Paralogs for AGA gene
    ASRGL12  TASP12  

    Find genes that share paralogs with AGA           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AGA (see all 397)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
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    ----------
    rs1219649041,2,,4
    CAspartylglucosaminuria (AGU)4 pathogenic1178131729(-) GAATTC/GCCAGC 5 S C mis10--------
    rs1921951501,2,,4
    CAspartylglucosaminuria (AGU)4 --178131735(+) AATTCC/TGAGCA 5 Q R mis10--------
    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--------

    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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AGA
    DNA2.0 Custom Variant and Variant Library Synthesis for AGA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 613228   
    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

  • 7 diseases for AGA:    
    About MalaCards
    aspartylglucosaminuria    lysosomal storage disease    angiokeratoma    fucosidosis
    galactosemia    retinal drusen    rubella

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

    Find genes that share disorders with AGA           About GenesLikeMe

    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)
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    PubMed articles for AGA gene, integrated from 10 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. (Hum. Mol. Genet. 2001)
    2. Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. (PubMed id 1703489)1, 2, 9 Ikonen E.... Peltonen L. (EMBO J. 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. (Hum. Mol. Genet. 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. (J. Biol. Chem. 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. (Clin. Genet. 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. (FEBS Lett. 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. (FEBS Lett. 1990)
    8. Three-dimensional structure of human lysosomal aspartylglucosaminidase. (PubMed id 8846222)1, 2, 9 Oinonen C.... Peltonen L. (Nat. Struct. Biol. 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. (Nature 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 175 HGNC: 318 AceView: AGA Ensembl:ENSG00000038002 euGenes: HUgn175
    ECgene: AGA Kegg: 175 H-InvDB: AGA

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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/books/NBK1116/?term=AGA[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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