ASPA Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ASPA |
| Official Name | aspartoacylase [Source:HGNC Symbol;Acc:HGNC:756] |
| Ensembl ID | ENSG00000108381 |
| Bio databases IDs | |
| Aliases | aspartoacylase, aminoacylase 2, Canavan disease |
| Synonyms | ACY2, ASP, aspartoacylase, nur7 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ASPA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Succinylglutamate desuccinylase / Aspartoacylase family
- aminoacylase
- aspartoacylase
- enzyme
- protein binding
- M14 family of metallocarboxypeptidases and related proteins
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- neoplasia
- liver cancer
- mild Canavan disease
- hereditary disorder
- hepatocellular carcinoma
- Canavan disease
- prion disease
- diabetic nephropathy
- prostatic adenocarcinoma
role in cell
- number
- proliferation
- phosphorylation in
- growth
- differentiation
- invasion by
- migration
- degeneration
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ASPA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- acetate metabolic process
- central nervous system myelination
- aspartate metabolic process
- positive regulation of oligodendrocyte differentiation
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
Molecular Function
What the gene product does at the molecular level
- hydrolase activity, acting on ester bonds
- hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides
- identical protein binding
- protein binding
- aspartoacylase activity
- metal ion binding