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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
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:73304987-73326867 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 45.28 cM, cytoband B4
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    14 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_87914
protein coding gene Chr11:73304987-73329596 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018660
protein coding gene Chr11:73987815-74018004 (-)
A/J MGP_AJ_G0018628
protein coding gene Chr11:71217239-71242629 (-)
AKR/J MGP_AKRJ_G0018597
protein coding gene Chr11:73393186-73418816 (-)
BALB/cJ MGP_BALBcJ_G0018600
protein coding gene Chr11:71517336-71541636 (-)
C3H/HeJ MGP_C3HHeJ_G0018413
protein coding gene Chr11:73342237-73372713 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019051
protein coding gene Chr11:76241174-76265509 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016694
protein coding gene Chr11:68024067-68047522 (-)
CAST/EiJ MGP_CASTEiJ_G0017968
protein coding gene Chr11:73729808-73753425 (-)
CBA/J MGP_CBAJ_G0018385
protein coding gene Chr11:79599361-79626003 (-)
DBA/2J MGP_DBA2J_G0018494
protein coding gene Chr11:70840958-70865369 (-)
FVB/NJ MGP_FVBNJ_G0018485
protein coding gene Chr11:70388110-70412277 (-)
LP/J MGP_LPJ_G0018565
protein coding gene Chr11:74506815-74532089 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018508
protein coding gene Chr11:80107548-80135636 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019093
protein coding gene Chr11:73570148-73594541 (-)
PWK/PhJ MGP_PWKPhJ_G0017741
protein coding gene Chr11:71487278-71512243 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017531
protein coding gene Chr11:73292866-73318110 (-)
WSB/EiJ MGP_WSBEiJ_G0018022
protein coding gene Chr11:73330877-73356408 (-)



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
    UniProt: P45381

  • Chr Location
    17p13.2; chr17:3474106-3502534 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    60 phenotypes from 6 alleles in 6 genetic backgrounds
    18 phenotypes from multigenic genotypes
    4 images
    33 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11484 NCBI Gene Model | MGI Sequence Detail 21881 C57BL/6J ±  kb
    transcript NM_023113 RefSeq | MGI Sequence Detail 1537 C57BL/6  
    polypeptide Q8R3P0 UniProt | EBI | MGI Sequence Detail 312 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 25
      cDNA 25

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-1100, MGD-MRK-1102, MGI:2671359
    References
    more
    • Summaries
      All 69
      Developmental Gene Expression 4
      Diseases 6
      Gene Ontology 7
      Phenotypes 33
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:255312 von Jonquieres G, et al., Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy. Acta Neuropathol. 2018 Jan;135(1):95-113

    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
    11/13/2018
    MGI 6.13
    The Jackson Laboratory