InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ASPA

Summary

InnateDB Protein

IDBP-361574.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ASPA

Protein Name

aspartoacylase

Synonyms

ACY2; ASP;

Species

Homo sapiens

Ensembl Protein

ENSP00000409976

InnateDB Gene

IDBG-17039 (ASPA)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Cytoplasm. Nucleus {ECO:0000250}.

Disease Associations

Canavan disease (CAND) [MIM:271900]: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demyelination that gives rise to a spongy appearance. The clinical features are onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average. {ECO:0000269PubMed:10407784, ECO:0000269PubMed:10564886, ECO:0000269PubMed:10909858, ECO:0000269PubMed:12205125, ECO:0000269PubMed:12638939, ECO:0000269PubMed:7599639, ECO:0000269PubMed:7668285, ECO:0000269PubMed:8023850, ECO:0000269PubMed:8252036, ECO:0000269PubMed:8659549, ECO:0000269PubMed:9452117}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Brain white matter, skeletal muscle, kidney, adrenal glands, lung and liver.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	2 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004046	aminoacylase activity
GO:0016788	hydrolase activity, acting on ester bonds
GO:0016811	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides
GO:0019807	aspartoacylase activity
GO:0046872	metal ion binding