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ASPA (aspartoacylase)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
443
Gene nameGene Name - the full gene name approved by the HGNC.
Aspartoacylase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ASPA
SynonymsGene synonyms aliases
ACY2, ASP
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.2
SummarySummary of gene provided in NCBI Entrez 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]
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT052301 hsa-let-7b-5p CLASH 23622248
MIRT447681 hsa-miR-203a-3p PAR-CLIP 22100165
MIRT447682 hsa-miR-100-3p PAR-CLIP 22100165
MIRT447683 hsa-miR-551b-5p PAR-CLIP 22100165
MIRT711575 hsa-miR-629-3p HITS-CLIP 19536157
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004046 Function Aminoacylase activity TAS 8252036
GO:0005515 Function Protein binding IPI 22284616, 25416956, 25910212, 32296183, 32814053
GO:0005634 Component Nucleus IEA
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol IDA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P45381
Protein name Aspartoacylase (EC 3.5.1.15) (Aminoacylase-2) (ACY-2)
Protein 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.
PDB 2I3C , 2O4H , 2O53 , 2Q51 , 4MRI , 4MXU , 4NFR , 4TNU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04952 AstE_AspA
10 301
Succinylglutamate desuccinylase / Aspartoacylase family
Domain
Sequence
Sequence length 313
Interactions View interactions

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