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Aspa Gene Detail
Summary
  • Symbol
    Aspa
  • Name
    aspartoacylase
  • Synonyms
    Acy2, Acy-2, aspartoacylase, nur7, small lethargic
  • Feature Type
    protein coding gene
  • IDs
    MGI:87914
    NCBI Gene: 11484
Location & Maps
more
  • Sequence Map
    Chr11:73304992-73329596 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      24605 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 45.28 cM, cytoband B4
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    ASPA, aspartoacylase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ASPA, aspartoacylase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ACY2, ASP
  • Links
    NCBI Gene ID: 443
    neXtProt AC: NX_P45381

  • Chr Location
    17p13.2; chr17:3474110-3499406 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Aspa mouse models; 1 with human ASPA associations

Human Disease Mouse Models
       Canavan Disease   OMIM: 271900 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    48 phenotypes from 5 alleles in 5 genetic backgrounds
    18 phenotypes from multigenic genotypes
    29 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    18
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    1
  • Gene trapped
    6
  • Targeted
    9
  • Genomic Mutations
    2 involving Aspa
  • Incidental Mutations
    APF
Homozygous null mutants have spongy degeneration of the brain, enlarged heads, and decreased life spans and display metal retardation and impaired coordination. Additionally, mice homozygous for an ENU-induced mutation also exhibit hearing impairment.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    26 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 24
    cDNA 24

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-1100, MGD-MRK-1102, MGI:2671359
References
more
  • Summaries
    All 56
    Developmental Gene Expression 4
    Diseases 5
    Gene Ontology 7
    Phenotypes 29
  • 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:226682 Maier H, et al., N-Acetylaspartate Synthase Deficiency Corrects the Myelin Phenotype in a Canavan Disease Mouse Model But Does Not Affect Survival Time. J Neurosci. 2015 Oct 28;35(43):14501-16

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory