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.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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 |