U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Aspa aspartoacylase [ Mus musculus (house mouse) ]

Gene ID: 11484, updated on 18-Jun-2024

Summary

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Aspa in Genome Data Viewer
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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
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

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)

NEW Try the new Transcript table

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_001417264.1NP_001404193.1  aspartoacylase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL645739
    UniProtKB/Swiss-Prot
    Q5SV07, Q8R3P0, Q9D876, Q9DCE2, Q9JIN8
  2. NM_001417265.1NP_001404194.1  aspartoacylase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL645739
  3. NM_001417266.1NP_001404195.1  aspartoacylase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL645739
    UniProtKB/Swiss-Prot
    Q5SV07, Q8R3P0, Q9D876, Q9DCE2, Q9JIN8
  4. NM_001417267.1NP_001404196.1  aspartoacylase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL645739
    UniProtKB/Swiss-Prot
    Q5SV07, Q8R3P0, Q9D876, Q9DCE2, Q9JIN8
  5. NM_023113.6NP_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:10299
    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_006532013.5XP_006532076.2  aspartoacylase isoform X2

    Conserved Domains (1) summary
    cl11393
    Location:10263
    Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins
  2. XM_036156240.1XP_036012133.1  aspartoacylase isoform X3

    Conserved Domains (1) summary
    cl11393
    Location:12231
    Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins
  3. XM_011248673.4XP_011246975.1  aspartoacylase isoform X4

    UniProtKB/TrEMBL
    B0QZP3
    Related
    ENSMUSP00000139131.2, ENSMUST00000155630.9
    Conserved Domains (1) summary
    cd06909
    Location:11175
    M14_ASPA; Peptidase M14 Aspartoacylase (ASPA) subfamily