Mus musculus Gene: Aspa | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-198139.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | Aspa | ||||||||||||||||||
Gene Name | aspartoacylase | ||||||||||||||||||
Synonyms | Acy-2; Acy2; nur7 | ||||||||||||||||||
Species | Mus musculus | ||||||||||||||||||
Ensembl Gene | ENSMUSG00000020774 | ||||||||||||||||||
Encoded Proteins |
aspartoacylase
aspartoacylase
aspartoacylase
aspartoacylase
aspartoacylase
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
Summary |
This gene encodes an enzyme that deacteylates N-acetyl-L-aspartic acid (NAA) in the brain to yield acetate and L-aspartate. In humans, alterations in neuronal NAA concentration are associated with many neurodegenerative diseases (decrease associated with epilepsy, multiple sclerosis, myotrophic lateral sclerosis, and Alzheimer's disease; increase associated with Canavan disease). In mouse, mutations in this gene, which cause accumulation of NAA, result in demyelination and spongy degeneration in the CNS and serve as a pathophysiological model for Canavan disease. [provided by RefSeq, Dec 2012] This gene encodes an enzyme that deacteylates N-acetyl-L-aspartic acid (NAA) in the brain to yield acetate and L-aspartate. In humans, alterations in neuronal NAA concentration are associated with many neurodegenerative diseases (decrease associated with epilepsy, multiple sclerosis, myotrophic lateral sclerosis, and Alzheimer\'s disease; increase associated with Canavan disease). In mouse, mutations in this gene, which cause accumulation of NAA, result in demyelination and spongy degeneration in the CNS and serve as a pathophysiological model for Canavan disease. [provided by RefSeq, Dec 2012] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 11:73304992-73329596 | ||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||
Band | B4 | ||||||||||||||||||
Transcripts | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME | |||||||||||||||||||
KEGG |
Histidine metabolism pathway
Alanine, aspartate and glutamate metabolism pathway
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INOH | |||||||||||||||||||
PID NCI | |||||||||||||||||||
Pathway Predictions based on Human Orthology Data | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME | |||||||||||||||||||
KEGG |
Histidine metabolism pathway
Alanine, aspartate and glutamate metabolism pathway
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INOH |
Alanine Aspartate Asparagine metabolism pathway
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PID NCI | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | |||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | |||||||||||||||||||
UniGene | Mm.293574 | ||||||||||||||||||
RefSeq | NM_023113 XM_006532010 XM_006532011 XM_006536285 XM_006536286 | ||||||||||||||||||
OMIM | |||||||||||||||||||
CCDS | CCDS25005 | ||||||||||||||||||
HPRD | |||||||||||||||||||
IMGT | |||||||||||||||||||
MGI ID | |||||||||||||||||||
MGI Symbol | |||||||||||||||||||
EMBL | |||||||||||||||||||
GenPept | |||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||