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

AGA Gene

protein-coding   GIFtS: 61
GCID: GC04M178351

aspartylglucosaminidase
 Explore 20 diseases affiliated with
AGA via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for AGA    

Aliases
for AGA gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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
Aspartylglucosaminidase3     GA2
Aspartylglucosaminidase3     N(4)-(Beta-N-Acetylglucosaminyl)-L-Asparaginase1
ASRG1 2     Aspartylglucosylamine Deaspartylase2
N4-(N-Acetyl-Beta-Glucosaminyl)-L-Asparagine Amidase2 3     Glycosylasparaginase3
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 FR335849 FR044001      
H-InvDB:HIT000196525 HIT000195964 HIT000323361    
NCBI:M83247 M60809 X73071    
NONCODE:n409303    
RNAdb:HIV1358 HIV1347 HIV1369    

Export aliases for AGA gene to outside databases

Previous GC identifers: GC04M179239 GC04M178901 GC04M179047 GC04M178727 GC04M178588 GC04M174102


Summaries
for AGA gene

(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:
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)

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)

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

Genomic Views
for AGA 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  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 plasmid: AGA 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)

  • n409303
  • FR0217788
  • FR0335849
  • FR0044001
178351928 178357793 178363657 chr4

Proteins
for AGA gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P20933

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

    AGA Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000264595   ENSP00000423798   ENSP00000421471  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: AGA
    OriGene Custom Protein Services for AGA 
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    Novus Biologicals AGA Proteins
    Novus Biologicals AGA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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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    Novus Biologicals AGA Antibodies
    Search for Antibodies for AGA at Abcam  
    Uscn Antibodies for AGA
    Search ThermoFisher Antibodies for AGA

    Assay Products for AGA: 
    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for AGA

    Protein Domains /
    Families
    for AGA gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AGA for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000246 Peptidase_T2

    Graphical View of Domain Structure for InterPro Entry P20933

    ProtoNet protein and cluster: P20933

    1 Blocks protein family: IPB000246 Asparaginase 2 family

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


    Function
    for AGA gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: AGA
    Browse MicroRNA Expression Plasmids
    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 plasmid: AGA 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AGA (see all 7)
    OriGene shRNA RFP: AGA
    OriGene siRNA: AGA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AGA

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for AGA

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AGA (see all 4)
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    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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AGA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AGA 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for AGA
    Search LifeMap BioReagents cell lines for AGA

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGA

    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


    Animal Models:
         Mouse knock-outs for AGA: Agatm1Pltn Agatm1Vk
         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


    Pathways & Interactions
    for AGA gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Integrated Pancreatic Cancer Pathway
    		Integrated Pancreatic Cancer Pathway1.00
    		Integrated Pancreatic Cancer Pathway0.99
    2Lysosome
    		Lysosome1.00
    3Other glycan degradation
    		Other glycan degradation1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for AGA 
        Integrated Pancreatic Cancer Pathway
    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



    Drugs & Compounds
    for AGA gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

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

    Transcripts
    for AGA gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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:             		 OriGene 3'-UTR Clone: AGA
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: AGA 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AGA (see all 7)
    OriGene shRNA RFP: AGA
    OriGene siRNA: AGA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AGA
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AGA (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AGA (see all 3)
    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 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AGA
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AGA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AGA

    Additional cDNA 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):

    BC012392 AA808440 CR607548 CR599662 AU100349 R72396 AI422721 AA887678 
    BQ021216 AU102284 BI492923 BM832876 AU102285 AI249334 AA934960 AI453220 
    CK819403 AI554454 AI208111 AA612630 AA694437 NM_000027 AA490958 CA866926 

    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

    Expression
    for AGA gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTTCTAAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    AGA expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerMature Horizontal CellsHorizontal, Retina
    EyeInner Nuclear LayerMature Rod Bipolar CellsBipolar, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    for AGA gene

    (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 last universal common ancestor (LUCA).

    Orthologs for AGA gene from 10/28 species (see all 28)    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
    		 --
    		 63(a)
    		 1 ↔ 1
    		 5(116893511-116909145)
    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 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria iaaA6
    		 Isoaspartyl peptidase
    		 24(a)
    		 1 ↔ 1
    		 Chromosome(865791-866756)


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

    Paralogs
    for AGA gene

    (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



    Genomic Variants
    for AGA gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for AGA
         1 CNV: 3528
    Human Gene Mutation Database (HGMD): AGA
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AGA
    DNA2.0 Custom Variant and Variant Library Synthesis for AGA

    Disorders / Diseases
    for AGA gene

    (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
    AGA for disorders           About GeneDecksing

    OMIM gene information: 613228 601519 603663 605480 609456 208400    
    OMIM disorders: 208400  
    UniProtKB/Swiss-Prot: ASPG_HUMAN, P20933
  • Defects in AGA are the cause of aspartylglucosaminuria (AGU) [MIM:208400]. AGU is an inborn lysosomal storage
    • disease. Clinical features of AGU include mild to severe mental retardation manifesting from the age of 2, coarse
    facial features and mild connective tissue abnormalities. This recessively inherited disease is overrepresented in the
    Finnish population

    20 diseases for AGA:    About MalaCards
    lysosomal storage disease    neuronal ceroid-lipofuscinosis    congenital disorder of glycosylation type i    ceroid lipofuscinosis
    congenital disorder of glycosylation    mannosidase deficiency disease    aspartylglucosaminuria    angiokeratoma
    metabolic disorders    fucosidosis    intellectual disability    galactosemia
    herpes simplex    rubella    neurodegeneration    periodontitis
    periodontal disease    schizophrenia    influenza    neuronitis

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

    6 Novoseek 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


    Export disorders for AGA gene to outside databases

    Publications
    for AGA gene

    (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 126):
    (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)

    External Searches for AGA gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
    Disorders
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    Genome Databases showing AGA gene

    (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

    Other Databases showing AGA gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AGA gene

    (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

    Intellectual Property
    for AGA gene

    (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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    About This Section

     
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