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ASPA Gene

protein-coding   GIFtS: 66
GCID: GC17P003376

Aspartoacylase

(Previous names: aspartoacylase (aminoacylase 2, Canavan disease))
  See ASPA-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
aspartoacylase1 2     EC 3.5.1.153 8
Aminoacylase 21 2     Aspartoacylase (Aminoacylase 2, Canavan Disease)1
ACY-22 3     Canavan Disease1
ACY22 3     aminoacylase-22
ASP2 3     Aminoacylase-23

External Ids:    HGNC: 7561   Entrez Gene: 4432   Ensembl: ENSG000001083817   OMIM: 6080345   UniProtKB: P453813   

Export aliases for ASPA gene to outside databases

Previous GC identifers: GC17P003693 GC17P003330 GC17P003585 GC17P003326 GC17P003269


(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 ASPA Gene:
This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and
acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white
matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease.
Alternatively spliced transcript variants have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ASPA Gene:
ASPA (aspartoacylase) is a protein-coding gene. Diseases associated with ASPA include canavan disease, and ascaridiasis. GO annotations related to this gene include aspartoacylase activity and hydrolase activity, acting on ester bonds. An important paralog of this gene is ACY3.

UniProtKB/Swiss-Prot: ACY2_HUMAN, P45381
Function: Catalyzes the deacetylation of N-acetylaspartic acid (NAA) to produce acetate and L-aspartate. NAA
occurs in high concentration in brain and its hydrolysis NAA plays a significant part in the maintenance of
intact white matter. In other tissues it act as a scavenger of NAA from body fluids




(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_000017.10  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ASPA gene promoter:
         Elk-1   AML1a   LyF-1   Cdc5   YY1   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidASPA promoter sequence
   Search Chromatin IP Primers for ASPA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ASPA


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

Entrez Gene cytogenetic band: 17p13.3   Ensembl cytogenetic band:  17p13.2   HGNC cytogenetic band: 17p13.3

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P003376:  view genomic region     (about GC identifiers)

Start:
3,375,668 bp from pter      End:
3,406,713 bp from pter
Size:
31,046 bases      Orientation:
plus strand

(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: ACY2_HUMAN, P45381 (See protein sequence)
Recommended Name: Aspartoacylase  
Size: 313 amino acids; 35735 Da
Cofactor: Binds 1 zinc ion per subunit
Subunit: Homodimer (Probable)
4 PDB 3D structures from and Proteopedia for ASPA:
2I3C (3D)        2O4H (3D)        2O53 (3D)        2Q51 (3D)    

Explore the universe of human proteins at neXtProt for ASPA: NX_P45381

Explore proteomics data for ASPA at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ASPA (P45381) (see all 11)
     GPQPQGV  GGTHGNE  KCTRYID  TLILEDS 


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

    REFSEQ proteins (2 alternative transcripts): 
    NP_000040.1  NP_001121557.1  

    ENSEMBL proteins: 
     ENSP00000458324   ENSP00000409976   ENSP00000263080   ENSP00000461358  

    ASPA Human Recombinant Protein Products:

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    Novus Biologicals ASPA Proteins
    Novus Biologicals ASPA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for ASPA
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for ASPA 

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    Search eBioscience for ELISAs for ASPA 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR016708 Aspartoacylase
     IPR007036 Aste_AspA

    Graphical View of Domain Structure for InterPro Entry P45381

    ProtoNet protein and cluster: P45381

    1 Blocks protein domain: IPB007036 Succinylglutamate desuccinylase/aspartoacylase

    UniProtKB/Swiss-Prot: ACY2_HUMAN, P45381
    Similarity: Belongs to the AspA/AstE family. Aspartoacylase subfamily


    Find genes that share domains with ASPA           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: ACY2_HUMAN, P45381
    Function: Catalyzes the deacetylation of N-acetylaspartic acid (NAA) to produce acetate and L-aspartate. NAA
    occurs in high concentration in brain and its hydrolysis NAA plays a significant part in the maintenance of
    intact white matter. In other tissues it act as a scavenger of NAA from body fluids
    Catalytic activity: N-acyl-L-aspartate + H(2)O = a carboxylate + L-aspartate

         Genatlas biochemistry entry for ASPA:
    aspartoacylase,36kDa,expressed in skeletal muscle,kidney,brain,hydrolyzing preferentially N-acetyl-L-aspartic acid

         Enzyme Number (IUBMB): EC 3.5.1.151 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004046aminoacylase activity TAS8252036
    GO:0016788hydrolase activity, acting on ester bonds IEA--
    GO:0016811hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides ----
    GO:0019807aspartoacylase activity IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with ASPA           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for ASPA:
     Decreased influenza A/WSN/33 r  Increased cell number in G2M,   Increased gamma-H2AX phosphory 

         11 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Aspa):
     adipose tissue  behavior/neurological  craniofacial  growth/size/body  integument 
     mortality/aging  muscle  nervous system  normal  skeleton 
     vision/eye 

    Find genes that share phenotypes with ASPA           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Aspatm1Mata for ASPA

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ASPA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ASPA

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

    miRNA
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    miRTarBase miRNAs that target ASPA:
    hsa-let-7b-5p (MIRT052301)

    Block miRNA regulation of human, mouse, rat ASPA using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate ASPA:
    hsa-miR-3910 hsa-miR-124 hsa-miR-506 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidASPA 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat ASPA

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): ASPA (NM_001128085)
    Sino Biological Human cDNA Clone for ASPA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASPA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASPA

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPA


    (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
    ACY2_HUMAN, P45381: Cytoplasm. Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    cytoskeleton1
    extracellular1
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with ASPA           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 ASPA About    
    See pathways by source

    SuperPathContained pathways About
    1Histidine metabolism
    Histidine metabolism
    2Alanine, aspartate and glutamate metabolism
    Alanine, aspartate and glutamate metabolism
    3Alanine and aspartate metabolism
    Alanine and aspartate metabolism


    Find genes that share SuperPaths with ASPA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ASPA
        Alanine and aspartate metabolism



    2 Kegg Pathways  (Kegg details for ASPA):
        Alanine, aspartate and glutamate metabolism
    Histidine metabolism

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ASPA: 
              Multiple Sclerosis in human mouse rat
              Amino Acid Metabolism II in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ASPA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ASPA (P453812 ENSP000002630804) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ASPAP453812MINT-67799
    ASNSENSP000001755064STRING: ENSP00000175506
    ASS1ENSP000002530044STRING: ENSP00000253004
    GOT1ENSP000003595394STRING: ENSP00000359539
    GOT2ENSP000002452064STRING: ENSP00000245206
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006533aspartate catabolic process TAS8252036
    GO:0008152metabolic process ----
    GO:0022010central nervous system myelination IEA--
    GO:0048714positive regulation of oligodendrocyte differentiation IEA--

    Find genes that share ontologies with ASPA           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 ASPA (ACY2)

    Selected HMDB Compounds for ASPA (see all 14)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Acetic acidAcetate (see all 12)64-19-7--
    Arachidic acidArachate (see all 10)506-30-9--
    Arachidonic acid5,8,11,14-Eicosatetraenoic acid (see all 16)506-32-1--
    Formic acidAdd-F (see all 21)64-18-6--
    Heptadecanoic acidHeptadecanoate (see all 16)506-12-7--
    Heptadecanoyl CoAHeptadecanoyl coenzyme A (see all 19)3546-17-6--
    L-Aspartic acid(+)-Aspartate (see all 41)56-84-8--
    Myristic acid1-Tridecanecarboxylate (see all 15)544-63-8--
    N-Acetyl-L-aspartic acid(2S)-2-acetamidobutanedioic acid (see all 18)997-55-7--
    Palmitic acidHexaectylic acid (see all 45)57-10-3--

    1 DrugBank Compound for ASPA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Aspartic Acid(+)-Aspartic acid (see all 23)56-84-8target--17275978 17194761 17254025 17219235 17177147

    9 Novoseek inferred chemical compound relationships for ASPA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    n-acetylaspartate 91.6 91 8295397 (2), 19319678 (2), 10894262 (2), 15857674 (2) (see all 42)
    n-acetyl-aspartyl-glutamate 76.5 1 15246864 (1)
    aspartate 59 15 16669630 (1), 17632691 (1), 18293939 (1), 16707098 (1) (see all 12)
    acetyl-coa 34.2 2 16647192 (1), 16730130 (1)
    glutamate 29.6 2 18433445 (1), 15246864 (1)
    carboxylate 20 1 17027983 (1)
    zinc 6.88 5 16669630 (1), 17027983 (1), 17391648 (1), 17194761 (1)
    lipid 0 6 16647192 (2), 17254025 (1), 15784740 (1), 19685155 (1)
    fatty acid 0 2 12670701 (1), 17275978 (1)



    Find genes that share compounds with ASPA           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 ASPA gene (2 alternative transcripts): 
    NM_000049.2  NM_001128085.1  

    Unigene Cluster for ASPA:

    Aspartoacylase
    Hs.171142  [show with all ESTs]
    Unigene Representative Sequence: BC029128
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000577034 ENST00000456349 ENST00000263080(uc010ckg.3 uc002fvq.3)
    ENST00000571278
    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate ASPA:
    hsa-miR-3910 hsa-miR-124 hsa-miR-506 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidASPA 3' UTR sequence
    Inhib. RNA
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ASPA
      QuantiTect SYBR Green Assays in human, mouse, rat ASPA
      QuantiFast Probe-based Assays in human, mouse, rat ASPA

    Additional mRNA sequence: 

    AK312901.1 BC010941.1 BC029128.1 CR541908.1 S67156.1 

    2 DOTS entries:

    DT.410219  DT.99959714 

    Selected AceView cDNA sequences (see all 38):

    BC029128 BX280301 CR541908 H24491 AA860932 BI823975 NM_000049 BI561787 
    AL703699 AI767553 AW298248 AI522292 AA112139 BG428490 BI762332 AI888020 
    S67156 AI830459 BF115120 BP360924 H99458 BC010941 AI798654 AI309783 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ASPA    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c
    SP1:                                                            
    SP2:                                            -               
    SP3:                                                            


    ECgene alternative splicing isoforms for ASPA

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


    ASPA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Cerebral Cortex
     
     Kidney (Urinary System)
             Metanephros
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Neural Tube (Nervous System)
             Telencephalon
    ASPA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ASPA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.171142

    UniProtKB/Swiss-Prot: ACY2_HUMAN, P45381
    Tissue specificity: Brain white matter, skeletal muscle, kidney, adrenal glands, lung and liver

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ASPA: 
              Multiple Sclerosis in human mouse rat
              Amino Acid Metabolism II in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ASPA
    OriGene qSTAR qPCR primer pairs in human, mouse for ASPA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ASPA
    QuantiTect SYBR Green Assays in human, mouse, rat ASPA
    QuantiFast Probe-based Assays in human, mouse, rat ASPA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPA

    (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 chordates.

    Orthologs for ASPA gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aspa1 , 5 aspartoacylase1, 5 86.75(n)1
    86.54(a)1
      11 (45.28 cM)5
    114841  NM_023113.51  NP_075602.21 
     733049925 
    chicken
    (Gallus gallus)
    Aves ASPA1 aspartoacylase 76.38(n)
    73.46(a)
      417609  XM_415853.4  XP_415853.3 
    lizard
    (Anolis carolinensis)
    Reptilia ASPA6
    aspartoacylase
    69(a)
    1 ↔ 1
    AAWZ02038341(10952-11137)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia aspa1 aspartoacylase 68.78(n)
    70(a)
      733935  NM_001045649.1  NP_001039114.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aspa1 aspartoacylase 62.24(n)
    62.46(a)
      557232  NM_001110103.1  NP_001103573.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ASPA gene
    ACY32  
    2 SIMAP similar genes for ASPA using alignment to 4 protein entries:     ACY2_HUMAN (see all proteins):
    ACY3    HCBP1

    Find genes that share paralogs with ASPA           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 ASPA (see all 655)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289402791,2,,4
    C,FCanavan disease (CAND)4 pathogenic13391165(+) GAATGA/CGGCCG 4 E A mis1 ese35Minor allele frequency- C:0.00NA EU 5857
    rs289405741,2,,4
    CCanavan disease (CAND)4 pathogenic13391225(+) CAATGC/AAAAAA 4 /E /A mis1 ese31Minor allele frequency- A:0.00EU 1299
    VAR_0390904
    Canavan disease (CAND)4--see VAR_0390902 A T mis40--------
    VAR_0390844
    Canavan disease (CAND)4--see VAR_0390842 R C mis40--------
    VAR_0167824
    Canavan disease (CAND)4--see VAR_0167822 E G mis40--------
    VAR_0390804
    Canavan disease (CAND)4--see VAR_0390802 G R mis40--------
    VAR_0167884
    Canavan disease (CAND)4--see VAR_0167882 D V mis40--------
    VAR_0049964
    Canavan disease (CAND)4--see VAR_0049962 C R mis40--------
    VAR_0390874
    Canavan disease (CAND)4--see VAR_0390872 M R mis40--------
    VAR_0167874
    Canavan disease (CAND)4--see VAR_0167872 H R mis40--------

    HapMap Linkage Disequilibrium report for ASPA (3375668 - 3406713 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ASPA:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660206CNV Deletion23128226
    nsv907553CNV Loss21882294
    nsv833341CNV Loss17160897
    nsv525085CNV Gain19592680
    nsv528368CNV Gain19592680

    Human Gene Mutation Database (HGMD): ASPA
    Locus Specific Mutation Databases (LSDB): ASPA

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 608034   
    OMIM disorders: 271900  
    UniProtKB/Swiss-Prot: ACY2_HUMAN, P45381
  • Canavan disease (CAND) [MIM:271900]: A rare neurodegenerative condition of infancy or childhood
    characterized by white matter vacuolization and demyelination that gives rise to a spongy appearance. The
    clinical features are onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and
    flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for ASPA:    
    About MalaCards
    canavan disease    ascaridiasis    severe canavan disease    mild canavan disease
    neurologic diseases    diabetic neuropathy

    2 diseases from the University of Copenhagen DISEASES database for ASPA:
    Canavan disease     Ascaridiasis

    Find genes that share disorders with ASPA           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ASPA gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    canavan disease 99.2 146 8088831 (4), 16802706 (3), 12162821 (3), 2309767 (3) (see all 72)
    leukodystrophy 94.5 23 2309767 (2), 10894262 (1), 17275978 (1), 8023850 (1) (see all 14)
    macrocephaly 85.2 1 10894262 (1)
    enzyme deficiency 67 5 12638939 (1), 15686967 (1), 15907664 (1)
    severe mental retardation 66.6 2 10894262 (1)
    neurodegenerative diseases 57.4 10 7668285 (1), 16854607 (1), 19764455 (1), 17027983 (1) (see all 9)
    developmental delay 53.9 2 16113575 (1)
    mental retardation 36.6 1 16121806 (1)
    genetic disorder 33.9 2 15784740 (1), 19685155 (1)
    neurological disorders 9.62 3 18293939 (1), 10894213 (1)

    GeneTests: ASPA
    GeneReviews: ASPA
    Genetic Association Database (GAD): ASPA
    Human Genome Epidemiology (HuGE) Navigator: ASPA (8 documents)

    Export disorders for ASPA 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 ASPA gene, integrated from 10 sources (see all 122):
    (articles sorted by number of sources associating them with ASPA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of aspartoacylase, the brain enzyme impaired in Canavan disease. (PubMed id 17194761)1, 2, 7, 9 Bitto E.... Phillips G.N. Jr. (Proc. Natl. Acad. Sci. U.S.A. 2007)
    2. Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. (PubMed id 8252036)1, 2, 3, 9 Kaul R.... Matalon R. (Nat. Genet. 1993)
    3. Canavan disease: mutations among Jewish and non-Jewish patients. (PubMed id 8023850)1, 2, 9 Kaul R....Matalon R. (Am. J. Hum. Genet. 1994)
    4. Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease. (PubMed id 17027983)1, 2, 9 Herga S.... Giardina T. (FEBS Lett. 2006)
    5. Purification and preliminary characterization of brain aspartoacylase. (PubMed id 12706335)1, 2, 9 Moore R.A.... Viola R.E. (Arch. Biochem. Biophys. 2003)
    6. Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease. (PubMed id 12638939)1, 2, 9 Zeng B.J.... Kolodny E.H. (J. Inherit. Metab. Dis. 2002)
    7. Identification and expression of eight novel mutations among non- Jewish patients with Canavan disease. (PubMed id 8659549)1, 2, 9 Kaul R.... Clarke J.T.R. (Am. J. Hum. Genet. 1996)
    8. The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients. (PubMed id 7668285)1, 2, 9 Shaag A....Elpeleg O.N. (Am. J. Hum. Genet. 1995)
    9. Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease. (PubMed id 12205125)1, 2, 9 Olsen T.R....Nilssen O. (J. Med. Genet. 2002)
    10. Examination of the mechanism of human brain aspartoacylase through the binding of an intermediate analogue. (PubMed id 18293939)1, 2, 9 Le Coq J.... Viola R.E. (Biochemistry 2008)

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

      Query String
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    OMIM
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 443 HGNC: 756 AceView: ASPA Ensembl:ENSG00000108381 euGenes: HUgn443
    ECgene: ASPA Kegg: 443 H-InvDB: ASPA

    (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)
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    NameDescription
    PharmGKB entry for ASPA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ASPA[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 ASPA gene:
    Search GeneIP for patents involving ASPA

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



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