Version 5.4
Homo sapiens Gene: ASPA
Summary
InnateDB Gene IDBG-17039.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ASPA
Gene Name aspartoacylase
Synonyms ACY2; ASP
Species Homo sapiens
Ensembl Gene ENSG00000108381
Encoded Proteins
IDBP-17043
aspartoacylase
IDBP-361574
aspartoacylase
IDBP-761650
IDBP-761501
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:3472374-3503419
Strand Forward strand
Band p13.2
Transcripts
ENST00000263080 ENSP00000263080
ENST00000456349 ENSP00000409976
ENST00000577034 ENSP00000458324
ENST00000571278 ENSP00000461358
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
Biological Process
GO:0006533 aspartate catabolic process
GO:0008152 metabolic process
GO:0022010 central nervous system myelination
GO:0048714 positive regulation of oligodendrocyte differentiation
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000020774
View Gene Order
ENSBTAG00000003629
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa00340
Histidine metabolism pathway
hsa00250
Alanine, aspartate and glutamate metabolism pathway
INOH
INOH website
Alanine Aspartate Asparagine metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.171142 Hs.604198 Hs.708495 Hs.80714
RefSeq NM_000049 NM_001128085
HUGO
OMIM
CCDS CCDS11028
HPRD 02033
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca