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ASPA (aspartoacylase)

Identity

Alias_namesaspartoacylase (aminoacylase 2
Alias_symbol (synonym)ASP
ACY2
Other alias
HGNC (Hugo) ASPA
LocusID (NCBI) 443
Atlas_Id 56197
Location 17p13.2  [Link to chromosome band 17p13]
Location_base_pair Starts at 3476002 and ends at 3499406 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ASPA (17p13.2) / PMVK (1q21.3)RABEP1 (17p13.2) / ASPA (17p13.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ASPA   756
Cards
Entrez_Gene (NCBI)ASPA  443  aspartoacylase
AliasesACY2; ASP
GeneCards (Weizmann)ASPA
Ensembl hg19 (Hinxton)ENSG00000108381 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108381 [Gene_View]  chr17:3476002-3499406 [Contig_View]  ASPA [Vega]
ICGC DataPortalENSG00000108381
TCGA cBioPortalASPA
AceView (NCBI)ASPA
Genatlas (Paris)ASPA
WikiGenes443
SOURCE (Princeton)ASPA
Genetics Home Reference (NIH)ASPA
Genomic and cartography
GoldenPath hg38 (UCSC)ASPA  -     chr17:3476002-3499406 +  17p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ASPA  -     17p13.2   [Description]    (hg19-Feb_2009)
EnsemblASPA - 17p13.2 [CytoView hg19]  ASPA - 17p13.2 [CytoView hg38]
Mapping of homologs : NCBIASPA [Mapview hg19]  ASPA [Mapview hg38]
OMIM271900   608034   
Gene and transcription
Genbank (Entrez)AK312901 BC010941 BC029128 CR541908 DQ892079
RefSeq transcript (Entrez)NM_000049 NM_001128085
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ASPA
Cluster EST : UnigeneHs.171142 [ NCBI ]
CGAP (NCI)Hs.171142
Alternative Splicing GalleryENSG00000108381
Gene ExpressionASPA [ NCBI-GEO ]   ASPA [ EBI - ARRAY_EXPRESS ]   ASPA [ SEEK ]   ASPA [ MEM ]
Gene Expression Viewer (FireBrowse)ASPA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)443
GTEX Portal (Tissue expression)ASPA
Protein : pattern, domain, 3D structure
UniProt/SwissProtP45381   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP45381  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP45381
Splice isoforms : SwissVarP45381
Catalytic activity : Enzyme3.5.1.15 [ Enzyme-Expasy ]   3.5.1.153.5.1.15 [ IntEnz-EBI ]   3.5.1.15 [ BRENDA ]   3.5.1.15 [ KEGG ]   
PhosPhoSitePlusP45381
Domains : Interpro (EBI)Aspartoacylase    Aste_AspA   
Domain families : Pfam (Sanger)AstE_AspA (PF04952)   
Domain families : Pfam (NCBI)pfam04952   
Conserved Domain (NCBI)ASPA
DMDM Disease mutations443
Blocks (Seattle)ASPA
PDB (SRS)2I3C    2O4H    2O53    2Q51    4MRI    4MXU    4NFR    4TNU   
PDB (PDBSum)2I3C    2O4H    2O53    2Q51    4MRI    4MXU    4NFR    4TNU   
PDB (IMB)2I3C    2O4H    2O53    2Q51    4MRI    4MXU    4NFR    4TNU   
PDB (RSDB)2I3C    2O4H    2O53    2Q51    4MRI    4MXU    4NFR    4TNU   
Structural Biology KnowledgeBase2I3C    2O4H    2O53    2Q51    4MRI    4MXU    4NFR    4TNU   
SCOP (Structural Classification of Proteins)2I3C    2O4H    2O53    2Q51    4MRI    4MXU    4NFR    4TNU   
CATH (Classification of proteins structures)2I3C    2O4H    2O53    2Q51    4MRI    4MXU    4NFR    4TNU   
SuperfamilyP45381
Human Protein AtlasENSG00000108381
Peptide AtlasP45381
HPRD02033
IPIIPI00021301   
Protein Interaction databases
DIP (DOE-UCLA)P45381
IntAct (EBI)P45381
FunCoupENSG00000108381
BioGRIDASPA
STRING (EMBL)ASPA
ZODIACASPA
Ontologies - Pathways
QuickGOP45381
Ontology : AmiGOaminoacylase activity  protein binding  nucleus  cytosol  cytosol  aspartate catabolic process  cellular amino acid biosynthetic process  hydrolase activity, acting on ester bonds  aspartoacylase activity  central nervous system myelination  metal ion binding  positive regulation of oligodendrocyte differentiation  extracellular exosome  
Ontology : EGO-EBIaminoacylase activity  protein binding  nucleus  cytosol  cytosol  aspartate catabolic process  cellular amino acid biosynthetic process  hydrolase activity, acting on ester bonds  aspartoacylase activity  central nervous system myelination  metal ion binding  positive regulation of oligodendrocyte differentiation  extracellular exosome  
Pathways : KEGGAlanine, aspartate and glutamate metabolism    Histidine metabolism   
NDEx NetworkASPA
Atlas of Cancer Signalling NetworkASPA
Wikipedia pathwaysASPA
Orthology - Evolution
OrthoDB443
GeneTree (enSembl)ENSG00000108381
Phylogenetic Trees/Animal Genes : TreeFamASPA
HOVERGENP45381
HOGENOMP45381
Homologs : HomoloGeneASPA
Homology/Alignments : Family Browser (UCSC)ASPA
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerASPA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ASPA
dbVarASPA
ClinVarASPA
1000_GenomesASPA 
Exome Variant ServerASPA
ExAC (Exome Aggregation Consortium)ASPA (select the gene name)
Genetic variants : HAPMAP443
Genomic Variants (DGV)ASPA [DGVbeta]
DECIPHERASPA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisASPA 
Mutations
ICGC Data PortalASPA 
TCGA Data PortalASPA 
Broad Tumor PortalASPA
OASIS PortalASPA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICASPA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDASPA
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch ASPA
DgiDB (Drug Gene Interaction Database)ASPA
DoCM (Curated mutations)ASPA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ASPA (select a term)
intoGenASPA
Cancer3DASPA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM271900    608034   
Orphanet21538    21537   
MedgenASPA
Genetic Testing Registry ASPA
NextProtP45381 [Medical]
TSGene443
GENETestsASPA
Huge Navigator ASPA [HugePedia]
snp3D : Map Gene to Disease443
BioCentury BCIQASPA
ClinGenASPA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD443
Chemical/Pharm GKB GenePA25055
Clinical trialASPA
Miscellaneous
canSAR (ICR)ASPA (select the gene name)
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineASPA
EVEXASPA
GoPubMedASPA
iHOPASPA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:06:55 CEST 2017

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