H-InvDB x AHG DB
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H-InvDB_8.3 released on March 26, 2013.
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H-Inv cluster ID: HIX0013426 Created date: 26-Mar-2013 Last modified: 20-Apr-2012
Definition: Aspartoacylase.
 
 

Gene structure  G-integra H-DBAS
H-Inv cluster ID HIX0013426
Genomic location  G-integra Help Chromosome 17
Location 17p13.2
Position 3377347- 3402700
Strand +
Antisense cluster ID(s) NA
Database links RefSeq NM_001128085; 
Ensembl ENST00000456349;  ENST00000263080; 
Entrez Gene Entrez Gene ID:443; 
KEGG GENES KEGG GENES(443); 
GeneCard GeneCardASPA;  *GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases; 
Cluster member H-Inv ID(s) HIT000431767;  HIT000040686;  HIT000050547;  HIT000216183;  HIT000268778; 
Additional cluster member candidate(s) NA
Related H-InvDB links H-DBASH-DBAS;  G-integraG-integra;  cDNA multiple alignmentcDNA-genome multiple alignment;  ORF multiple alignmentORF multiple alignment; 
Mini-G Locus map Locus map

 
TOP 1-5 LAST 
Cluster member (s)  G-integra H-DBAS
Locus member number 1
H-Inv ID Transcript viewHIT000431767
Accession number AK312901.1
CAGE tag ID NA
EST ID NA
Coding potential Protein coding; 
Definition Aspartoacylase.
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (NP_001121557)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens protein.
Gene symbol/name HGNC symbol ASPA 
HGNC aliases "aspartoacylase (aminoacylase 2, Canavan disease)" 
HGNC name aspartoacylase 
Transcript feature Representative H-Inv IDRepresentative transcript;  Splicing isoformSplicing isoform
Genomic location  G-integra Chromosome 17
Location 17p13.2
Position 3377347- 3402382
Strand +
Gene structure 7 exons
 
TOP 1-5 LAST 
Locus member number 2
H-Inv ID Transcript viewHIT000040686
Accession number BC029128.1
CAGE tag ID NA
EST ID NA
Coding potential Protein coding; 
Definition Aspartoacylase.
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (NP_001121557)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens protein.
Gene symbol/name HGNC symbol ASPA 
HGNC aliases "aspartoacylase (aminoacylase 2, Canavan disease)" 
HGNC name aspartoacylase 
Transcript feature NA
Genomic location  G-integra Chromosome 17
Location 17p13.2
Position 3379319- 3402700
Strand +
Gene structure 6 exons
 
TOP 1-5 LAST 
Locus member number 3
H-Inv ID Transcript viewHIT000050547
Accession number BC010941.1
CAGE tag ID NA
EST ID NA
Coding potential Protein coding; 
Definition Similar to Aspartoacylase; EC=3.5.1.15; Aminoacylase-2; ACY-2;
Similarity category  Help Category: Similar to known protein(Category II).
Similar to known protein (P45381)  [Identity/coverage = 100.0%/20.13%] to Homo sapiens (Human). protein.
Gene symbol/name HGNC symbol ASPA 
HGNC aliases "aspartoacylase (aminoacylase 2, Canavan disease)" 
HGNC name aspartoacylase 
Transcript feature Splicing isoformSplicing isoform
Genomic location  G-integra Chromosome 17
Location 17p13.2
Position 3379364- 3402697
Strand +
Gene structure 6 exons
 
TOP 1-5 LAST 
Locus member number 4
H-Inv ID Transcript viewHIT000216183
Accession number S67156.1
CAGE tag ID NA
EST ID NA
Coding potential Protein coding; 
Definition Aspartoacylase.
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (NP_001121557)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens protein.
Gene symbol/name HGNC symbol ASPA 
HGNC aliases "aspartoacylase (aminoacylase 2, Canavan disease)" 
HGNC name aspartoacylase 
Transcript feature Splicing isoformSplicing isoform
Genomic location  G-integra Chromosome 17
Location 17p13.2
Position 3379296- 3402700
Strand +
Gene structure 6 exons
 
TOP 1-5 LAST 
Locus member number 5
H-Inv ID Transcript viewHIT000268778
Accession number CR541908.1
CAGE tag ID NA
EST ID NA
Coding potential Protein coding; 
Definition Aspartoacylase.
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (NP_001121557)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens protein.
Gene symbol/name HGNC symbol ASPA 
HGNC aliases "aspartoacylase (aminoacylase 2, Canavan disease)" 
HGNC name aspartoacylase 
Transcript feature NA
Genomic location  G-integra Chromosome 17
Location 17p13.2
Position 3379454- 3402379
Strand +
Gene structure 6 exons

Alternative splicing (AS) information  G-integra H-DBAS
Pattern of alternative splicing isoforms 5' terminal AS;  3' terminal AS;  Internal AS; 
Position of alternative splicing isoforms Internal acceptor site; 
Alternative splicing isoform H-Inv ID(s) Splicing isoformHIT000216183;  Splicing isoformHIT000050547;  Splicing isoformHIT000431767; 
Related H-InvDB links H-DBASH-DBAS;  G-integraG-integra;  cDNA multiple alignmentcDNA-genome multiple alignment;  ORF multiple alignmentORF multiple alignment; 

Gene function information  G-integra PPI viewer H-DBAS Gene family Similarity Search Tool TACT
H-Inv cluster ID HIX0013426
Representative H-Inv ID Representative H-Inv IDHIT000431767
Accession number AK312901.1
CAGE tag ID NA
EST ID NA
Coding potential Protein coding; 
Definition Aspartoacylase.
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (NP_001121557)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens protein.
Gene family/group Gene family H-Inv gene family/group ID HIF0003836
Gene family/group name Aspartoacylase (IPR016708).
Evidence motif (InterPro) ID IPR016708
Gene symbol/name HGNC symbol ASPA 
HGNC aliases "aspartoacylase (aminoacylase 2, Canavan disease)" 
HGNC name aspartoacylase 
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000108499
No. of interaction 1
Interaction partner(s) HIP000078054; 
BIND NA
DIP NA
MINT NA
HPRD 03825; 
IntAct NA
Database links RefSeq NM_001128085; 
Ensembl ENST00000456349;  ENST00000263080; 
Entrez Gene Entrez Gene ID:443; 
KEGG GENES KEGG GENES(443); 
GeneCard GeneCardASPA;  *GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases; 
Related H-InvDB links G-integraG-integra;  PPI viewerPPI view;  H-DBASH-DBAS;  Aspartoacylase (IPR016708). Similarity Search ToolSimilarity search tool;  TACTTACT; 
Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:20-Apr-2012
Disease relation Disease name: Canavan disease (271900); 
Related information in OMIM OMIM ID:  608034;  Title: ASPARTOACYLASE
Co-localized orphan diseases OMIM ID:  215500;  601202;  605779;  605809;  606545;  608631;  610185;  611302;  612576; 
Disease related mutation MutationView:  608034; 
JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Co-occurred words and phrases with this gene name in PubMed (LEGENDA) LEGENDA Gene name Entrez Gene ID:(443); 
Disease Entrez Gene ID:(443); 
Gene function Entrez Gene ID:(443); 
Substance Entrez Gene ID:(443); 
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo Viewer;  LEGENDALEGENDA;