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

Chr11:73304992-73326807 bp, - strand From VEGA annotation of GRCm38   21816 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 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: aspartoacylase
Gene Tree: Aspa

Human homologs

Human Homolog		ASPA, aspartoacylase
NCBI Gene ID		443
neXtProt AC		NX_P45381
Human Synonyms		ACY2, ASP
Human Chr (Location)		17p13.3; chr17:3377404-3402700 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ASPA

Alleles and phenotypes

All alleles(14) : Targeted(7) Gene trapped(6) Chemically induced(1)
 

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 Using Mouse Aspa (1)    Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (12 annotations)

Process	acetate metabolic process, metabolic process, ...
Component	cytoplasm, nucleus
Function	aminoacylase activity, aspartoacylase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (4 records)
Data Summary: Results (293)    Tissues (147)    Images (50)
Theiler Stages: 19, 22, 23, 28

Assay Type	Results
RNA in situ	293

cDNA source data(24)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Aspa

Sequences

Length	Strain/Species
genomic	OTTMUSG00000006136	VEGA Gene Model | MGI Sequence Detail	21816	C57BL/6J
transcript	OTTMUST00000013867	VEGA | MGI Sequence Detail	1530	Not Applicable
polypeptide	OTTMUSP00000006437	VEGA | MGI Sequence Detail	312	Not Applicable

All sequences(43) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(5 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:194259 Lang J, et al., Adenomatous polyposis coli regulates oligodendroglial development. J Neurosci. 2013 Feb 13;33(7):3113-30
All references(55)

Other accession IDs

MGD-MRK-1100, MGD-MRK-1102, MGI:2671359