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Aspa Gene Detail
Summary
  • Symbol
    Aspa
  • Name
    aspartoacylase
  • Synonyms
    Acy-2, Acy2, aspartoacylase, nur7, small lethargic
  • Feature Type
    protein coding gene
  • IDs
    MGI:87914
    NCBI Gene: 11484
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:73195813-73217677 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • 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 Chr11:73195813-73220422 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ASPA, aspartoacylase
  • Synonyms
    ACY2, ASP
  • Links
    NCBI Gene ID: 443
    neXtProt AC: NX_P45381
    UniProt: P45381

  • Chr Location
    17p13.2; chr17:3472374-3503405 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Aspa mouse models; 1 with human ASPA associations

Human Disease Mouse Models
      
IDs
 View 5 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    63 phenotypes from 6 alleles in 7 genetic backgrounds
    19 phenotypes from multigenic genotypes
    4 images
    46 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.
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
less
  • All GO Annotations
    22
  • GO References
    12
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1003
  • Tissues
    148
  • cDNA Data
    25
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11484 NCBI Gene Model | MGI Sequence Detail 21865 C57BL/6J ±  kb
    transcript NR_184440 RefSeq | MGI Sequence Detail 1683 C57BL/6  
    polypeptide Q8R3P0 UniProt | EBI | MGI Sequence Detail 312 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 26
      cDNA 25
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-1100, MGD-MRK-1102, MGI:2671359
    References
    more
    • Summaries
      All 87
      Developmental Gene Expression 6
      Diseases 7
      Gene Ontology 12
      Phenotypes 46
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:349783 Hull VL, et al., Astroglial conditional Slc13a3 knockout is therapeutic in murine Canavan leukodystrophy. Ann Clin Transl Neurol. 2024 Apr;11(4):1059-1062
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory