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

ASPA Gene

protein-coding   GIFtS: 65
GCID: GC17P003326

aspartoacylase

(Previous names: aspartoacylase (aminoacylase 2, Canavan disease) )
 Explore 20 diseases affiliated with
ASPA via our new
 Human Malady Compendium 
Biological research products
for ASPA
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Aspartoacylase1     Aspartoacylase (Aminoacylase 2, Canavan Disease)1
ACY21 2 3     Aminoacylase 22
ASP1 2 3     Aminoacylase-23
ACY-22 3     Aminoacylase-23
EC 3.5.1.153 8     

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 GC17P003269


(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 ASPA:
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)

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010718.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ASPA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC17P003326:  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, 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: 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)
Subcellular location: Cytoplasm. Nucleus (By similarity)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P45381

  • 4/11 DME Specific Peptides for ASPA (P45381) (see all 11)
     GPQPQGV  GGTHGNE  KCTRYID  TLILEDS 

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

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

    ENSEMBL proteins: 
     ENSP00000458324   ENSP00000409976   ENSP00000263080   ENSP00000461358  

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    Uscn Proteins for ASPA

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

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


    ASPA for ontologies           About GeneDecksing



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

    ASPA for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR007036 Aste_AspA
     IPR016708 Aspartoacylase

    Graphical View of Domain Structure for InterPro Entry P45381

    ProtoNet protein and cluster: P45381

    1 Blocks protein family: IPB007036 Succinylglutamate desuccinylase/aspartoacylase

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


    (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: 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

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    SwitchGear 3'UTR luciferase reporter plasmidASPA 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004046aminoacylase activity TAS8252036
    GO:0016788hydrolase activity, acting on ester bonds IEA--
    GO:0019807aspartoacylase activity IEA--
    GO:0046872metal ion binding IEA--


    ASPA for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Aspatm1Mata for ASPA
         11 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Aspa):
     adipose tissue  behavior/neurological  craniofacial  growth/size  integument 
     mortality/aging  muscle  nervous system  normal  skeleton 
     vision/eye 

    ASPA for phenotypes           About GeneDecksing


    (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
    1Alanine, aspartate and glutamate metabolism
    Alanine, aspartate and glutamate metabolism1.00
    2Histidine metabolism
    Histidine metabolism1.00
    3alanine degradation III
    Alanine and aspartate metabolism0.08

    Pathway sources
    See GeneCards unified pathways
    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


    ASPA for pathways           About GeneDecksing

    Interactions:

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

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

    5/29 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): 3 biological process terms (GO ID links to tree view):    About this table

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


    ASPA for ontologies           About GeneDecksing



    (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

    ASPA for compounds           About GeneDecksing

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

    Browse Tocris compounds for ASPA

    10/14 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 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)

    Search CenterWatch for drugs/clinical trials and news about ASPA / ACY2 

    (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

    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

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    Inhib. RNA
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    Additional cDNA sequence: 

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

    2 DOTS entries:

    DT.410219  DT.99959714 

    24/38 AceView cDNA sequences (see all 38):

    BX280301 CR541908 BC029128 H24491 H99458 BG428490 BI762332 AI522292 
    BI561787 S67156 NM_000049 AL703699 BC010941 AI888020 BP360924 AA860932 
    BI823975 AI767553 AI830459 AI798654 BF115120 AA112139 AW298248 H99457 

    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™, 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

    ASPA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATACTTGGGT

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

    About this image
    See ASPA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ASPA

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including ASPA: 
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              Amino Acid Metabolism II in human mouse rat

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    In Situ
    Assay Products:
     

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

    This gene was present in the common ancestor of chordates.

    Orthologs for ASPA gene from 4/13 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_023113.41  NP_075602.21 
     733049925 
    chicken
    (Gallus gallus)
    Aves ASPA1 aspartoacylase 76.38(n)
    73.46(a)
      417609  XM_415853.3  XP_415853.2 
    lizard
    (Anolis carolinensis)
    Reptilia ASPA6
    --
    69(a)
    1 ↔ 1
    AAWZ02038341(10952-11137)
    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)
    About This Section
    Paralogs for ASPA gene
    ACY32  
    2 SIMAP similar genes for ASPA using alignment to 4 protein entries:     ACY2_HUMAN (see all proteins):
    ACY3    HCBP1

    ASPA for paralogs           About GeneDecksing



    (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

    10/502 NCBI SNPs in ASPA are shown (see all 502    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048945511,2
    Cpathogenic3379524(+) GAATGA/GGCTAA 4 E G mis10--------
    rs1048945491,2
    Cpathogenic3397663(+) CCCTGA/CGCCAT 4 * C stg10--------
    rs1048945501,2
    Cpathogenic3397701(+) TGATTA/GCCCCC 4 Y C mis10--------
    rs129482171,2
    C,F,A,pathogenic3397702(+) GATTAA/C/TCCCCG 6 * Y stg1 syn1 ese312NA MN CSA WA EU 6415
    rs289402791,2
    C,Fpathogenic3402294(+) GAATGA/CGGCCG 4 E A mis1 ese35Minor allele frequency- C:0.00NA EU 5857
    rs289405741,2
    Cpathogenic3402354(+) CAATGC/AAAAAA 4 /E /A mis1 ese32Minor allele frequency- A:0.00NA EU 1301
    rs766090821,2
    C,--3375535(+) TCCCCG/AGGAGG 7 -- us2k12Minor allele frequency- A:0.10WA 120
    rs1133362671,2
    C,F,--3375776(+) GAACAC/ACCTCT 7 -- us2k12Minor allele frequency- A:0.50NA 4
    rs1486864691,2
    --3375830(+) TACTAG/TAAGAT 7 -- us2k10--------
    rs1921561321,2
    --3375870(+) GCCCAA/GTAACT 7 -- us2k10--------

    HapMap Linkage Disequilibrium report for ASPA (3375668 - 3406713 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ASPA: --
    Human Gene Mutation Database (HGMD): ASPA

    Locus Specific Mutation Databases (LSDB): ASPA

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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.)
    About This Section

    ASPA for disorders           About GeneDecksing

    OMIM gene information: 608034   
    OMIM disorders: 271900  
    UniProtKB/Swiss-Prot: ACY2_HUMAN, P45381
  • Defects in ASPA are the cause of Canavan disease (CAND) [MIM:271900]; also known as spongy degeneration of the
  • brain. CAND is a rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization
    and demeylination 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

    20 diseases for ASPA:    About MalaCards
    canavan disease    succinic semialdehyde dehydrogenase deficiency    type 2 diabetes mellitus    autism spectrum disorder
    cortical blindness    intellectual disability    leukodystrophy    diabetes mellitus
    neurodegenerative disease    diabetic neuropathy    tremor    neurologic diseases
    blindness    neuropathy    hypotonia    seizures
    obesity    cerebritis    retinitis    neuronitis

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

    10/11 Novoseek 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
    Canavan Disease

    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)
    About This Section

    PubMed articles for ASPA gene, integrated from 9 sources (see all 120):
    (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. (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. (1993)
    3. Canavan disease: mutations among Jewish and non-Jewish patients. (PubMed id 8023850)1, 2, 9 Kaul R....Matalon R. (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. (2006)
    5. Purification and preliminary characterization of brain aspartoacylase. (PubMed id 12706335)1, 2, 9 Moore R.A.... Viola R.E. (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. (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. (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. (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. (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. (2008)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 443 HGNC: 756 AceView: ASPA Ensembl:ENSG00000108381 euGenes: HUgn443
    ECgene: ASPA Kegg: 443 H-InvDB: ASPA

    (According to HUGE)
    About This Section
      --

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

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