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Aspa
Gene Detail
Symbol

Name
ID
Aspa
aspartoacylase
MGI:87914
Synonyms
Acy2, Acy-2, aspartoacylase, nur7, small lethargic
Feature Type
protein coding gene
Genetic Map
Chromosome 11
45.28 cM, cytoband B4
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr11:73304992-73329596 bp, - strand
From VEGA annotation of GRCm38

  24605 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:33  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: ASPA
Protein SuperFamily: aspartoacylase
Gene Tree: Aspa

Human
homologs
ASPA, aspartoacylase
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 443
neXtProt AC: NX_P45381

Human Synonyms: ACY2, ASP

Human Chr (Location): 17p13.3; chr17:3474110-3499406 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human ASPA

Mutations,
alleles, and
phenotypes
All mutations/alleles(16) : Chemically induced (ENU)(1) Gene trapped(6) Targeted(9)
Genomic Mutations involving Aspa (1)
Incidental mutations (data from APF )
 
Homozygous null mutants have spongy degeneration of the brain, enlarged heads, and decreased life spans and display metal retardation and impaired coordination.
 
Human Diseases Modeled in Mice Using Aspa (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Aspa interacts with 108 markers (Mir1a-1, Mir1a-2, Mir19a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process acetate metabolic process, metabolic process, ...
Component cytoplasm, cytosol, ...
Function aminoacylase activity, aspartoacylase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (293)    Tissues (147)    Images (50)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 293
cDNA source data(24)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase aspa    NEW 
Molecular
reagents
All nucleic(24) cDNA(24)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000006136 (Evidence)
Ensembl Gene Model ENSMUSG00000020774 (Evidence)
Entrez Gene 11484 (Evidence)
UniGene 293574
DFCI TC1581704, TC1660748
DoTS DT.101365366, DT.524018, DT.91383638, DT.94197266
NIA Mouse Gene Index U033039
EC 3.5.1.15
Consensus CDS Project CCDS25005.1
International Mouse Phenotyping Consortium Status Aspa
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006136 VEGA Gene Model | MGI Sequence Detail 24605 C57BL/6J ±  kb
transcript OTTMUST00000013867 VEGA | MGI Sequence Detail 1530 Not Applicable 
polypeptide OTTMUSP00000006437 VEGA | MGI Sequence Detail 312 Not Applicable 

For the selected sequences
All sequences(74) RefSeq(26) UniProt(5)
Polymorphisms
SNPs within 2kb(29 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR016708 Aspartoacylase
InterPro IPR007036 Succinylglutamate desuccinylase/aspartoacylase
Protein Ontology PR:000004378 aspartoacylase
References
(Earliest) J:8672 Nadeau JH, A chromosomal segment conserved since divergence of lineages leading to man and mouse: the gene order of aminoacylase-1, transferrin, and beta-galactosidase on mouse chromosome 9 [published erratum appears in Genet Res 1987 Aug;50(1):77]. Genet Res. 1986 Dec;48(3):175-8
(Latest) J:216344 von Jonquieres G, et al., Loss of central auditory processing in a mouse model of Canavan disease. PLoS One. 2014;9(5):e97374
All references(57)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-1100, MGD-MRK-1102, MGI:2671359

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/30/2015
MGI 5.22
The Jackson Laboratory