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Aspa aspartoacylase [ Mus musculus (house mouse) ]

Gene ID: 11484, updated on 12-May-2024

Summary

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Official Symbol
Aspaprovided by MGI
Official Full Name
aspartoacylaseprovided by MGI
Primary source
MGI:MGI:87914
See related
Ensembl:ENSMUSG00000020774 AllianceGenome:MGI:87914
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Acy2; nur7; Acy-2
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]
Expression
Broad expression in large intestine adult (RPKM 9.3), cerebellum adult (RPKM 9.1) and 16 other tissues See more
Orthologs
human all
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Genomic context

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Location:
11 B4; 11 45.28 cM
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (73195813..73217677, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (73304987..73326876, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene transient receptor potential cation channel, subfamily V, member 1 Neighboring gene STARR-seq mESC enhancer starr_29931 Neighboring gene transient receptor potential cation channel, subfamily V, member 3 Neighboring gene STARR-seq mESC enhancer starr_29933 Neighboring gene STARR-seq mESC enhancer starr_29936 Neighboring gene spermatogenesis associated 22 Neighboring gene olfactory receptor family 1 subfamily E member 1 Neighboring gene olfactory receptor family 1 subfamily E member 1C

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Aspartoacylase suppresses prostate cancer progression by blocking LYN activation. Weng H, et al. Mil Med Res, 2023 Jun 5. PMID 37271807, Free PMC Article
  2. Brain Nat8l Knockdown Suppresses Spongiform Leukodystrophy in an Aspartoacylase-Deficient Canavan Disease Mouse Model. Bannerman P, et al. Mol Ther, 2018 Mar 7. PMID 29456021, Free PMC Article
  3. Redirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease. Gessler DJ, et al. JCI Insight, 2017 Feb 9. PMID 28194442, Free PMC Article
  4. N-acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase. Francis JS, et al. Neurobiol Dis, 2016 Dec. PMID 27717881, Free PMC Article
  5. Loss of central auditory processing in a mouse model of Canavan disease. von Jonquieres G, et al. PLoS One, 2014. PMID 24826990, Free PMC Article

See all (53) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Aspartoacylase suppresses prostate cancer progression by blocking LYN activation.
    Title: Aspartoacylase suppresses prostate cancer progression by blocking LYN activation.
  2. This study demonstrated that N-acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase.
    Title: N-acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase.
  3. Gata6 regulates differentiation, metabolism, and survival of resident peritoneal macrophages through aspartoacylase.
    Title: Gata6 regulates aspartoacylase expression in resident peritoneal macrophages and controls their survival.
  4. aspartoacylase is proposed here to support lipid synthesis and energy metabolism via the provision of substrate for both cellular processes during early postnatal development
    Title: Aspartoacylase supports oxidative energy metabolism during myelination.
  5. Intracellular vacuolisation in astrocytes coincides with axonal swellings in cerebellum and brain stem of aspa(lacZ/lacZ) mutants indicating that astroglia may act as an osmolyte buffer in the aspa-deficient CNS
    Title: Aspartoacylase-lacZ knockin mice: an engineered model of Canavan disease.
  6. Aspa defects were associated with increased levels of acetylated histone H3, decreased chromatin compaction and increased GFAP protein, a marker for astrogliosis. Early in postnatal development ASPA defic affects oligodendrocyte maturation and myelination
    Title: Aspartoacylase deficiency affects early postnatal development of oligodendrocytes and myelination.
  7. Death of OLs, neurons, and astrocytes was identified in every region of the aspartoacylase KO brain. These findings support involvement of ASPA in CNS development and function.
    Title: Lack of aspartoacylase activity disrupts survival and differentiation of neural progenitors and oligodendrocytes in a mouse model of Canavan disease.
  8. Nur7( Q193X) is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS.
    Title: Nur7 is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS.
  9. we now present immunoblot, proteomic, and biochemical evidence that the membrane-bound form of ASPA is intrinsic to purified myelin membranes.
    Title: Bimodal occurrence of aspartoacylase in myelin and cytosol of brain.
  10. ASPA gene defect in the mouse leads to spinal cord pathology; these changes may be involved in the cause of the physiological/behavioral abnormalities seen in the knockout mouse.
    Title: Aspartoacylase gene knockout results in severe vacuolation in the white matter and gray matter of the spinal cord in the mouse.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables aminoacylase activity TAS
Traceable Author Statement
more info
 PubMed 
enables aspartoacylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables aspartoacylase activity ISO
Inferred from Sequence Orthology
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IBA
Inferred from Biological aspect of Ancestor
more info
  
enables hydrolase activity, acting on ester bonds IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in acetate metabolic process IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within acetate metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in aspartate metabolic process IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in positive regulation of oligodendrocyte differentiation ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
aspartoacylase
Names
aminoacylase-2
aspartoacylase (aminoacylase) 2
NP_001404193.1
NP_001404194.1
NP_001404195.1
NP_001404196.1
NP_075602.2
XP_006532076.2
XP_011246975.1
XP_036012133.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001417264.1 → NP_001404193.1  aspartoacylase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL645739
    UniProtKB/Swiss-Prot
    Q5SV07, Q8R3P0, Q9D876, Q9DCE2, Q9JIN8

  2. NM_001417265.1 → NP_001404194.1  aspartoacylase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL645739

  3. NM_001417266.1 → NP_001404195.1  aspartoacylase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL645739
    UniProtKB/Swiss-Prot
    Q5SV07, Q8R3P0, Q9D876, Q9DCE2, Q9JIN8

  4. NM_001417267.1 → NP_001404196.1  aspartoacylase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL645739
    UniProtKB/Swiss-Prot
    Q5SV07, Q8R3P0, Q9D876, Q9DCE2, Q9JIN8

  5. NM_023113.6 → NP_075602.2  aspartoacylase isoform 1

    See identical proteins and their annotated locations for NP_075602.2

    Status: VALIDATED

    Source sequence(s)
    AL645739
    Consensus CDS
    CCDS25005.1
    UniProtKB/Swiss-Prot
    Q5SV07, Q8R3P0, Q9D876, Q9DCE2, Q9JIN8
    Related
    ENSMUSP00000021119.3, ENSMUST00000021119.9
    Conserved Domains (1) summary
    cl11393
    Location:10 → 299
    Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins

RNA

  1. NR_184438.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL645739

  2. NR_184439.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL645739

  3. NR_184440.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL645739

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    73195813..73217677 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006532013.5 → XP_006532076.2  aspartoacylase isoform X2

    Conserved Domains (1) summary
    cl11393
    Location:10 → 263
    Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins

  2. XM_036156240.1 → XP_036012133.1  aspartoacylase isoform X3

    Conserved Domains (1) summary
    cl11393
    Location:12 → 231
    Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins

  3. XM_011248673.4 → XP_011246975.1  aspartoacylase isoform X4

    UniProtKB/TrEMBL
    B0QZP3
    Related
    ENSMUSP00000139131.2, ENSMUST00000155630.9
    Conserved Domains (1) summary
    cd06909
    Location:11 → 175
    M14_ASPA; Peptidase M14 Aspartoacylase (ASPA) subfamily
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8R3P0.2 GenPept UniProtKB/Swiss-Prot:Q8R3P0

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