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Asah1 Gene Detail
Summary
  • Symbol
    Asah1
  • Name
    N-acylsphingosine amidohydrolase 1
  • Synonyms
    2310081N20Rik, acid ceramidase
  • Feature Type
    protein coding gene
  • IDs
    MGI:1277124
    NCBI Gene: 11886
  • Gene Overview
    MyGene.info: ASAH1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr8:41340197-41374773 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      34577 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 23.89 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    ASAH1, N-acylsphingosine amidohydrolase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ASAH1, N-acylsphingosine amidohydrolase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AC, ACDase, ASAH, PHP, PHP32, SMAPME
  • Links
    NCBI Gene ID: 427
    neXtProt AC: NX_Q13510
    UniProt: Q13510

  • Chr Location
    8p22; chr8:18056299-18084998 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Asah1 mouse models; 1 with human ASAH1 associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    42 phenotypes from 3 alleles in 3 genetic backgrounds
    3 phenotypes from multigenic genotypes
    11 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.
Nullizygous mutation of this gene causes embryonic lethality. Homozygotes for the P361R mutation die prematurely with growth defects, low acid ceramidase activity, high ceramide levels, histiocyte infiltrates into various organs, Farber bodies, short femur growth plates and altered ovary morphology.
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 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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000022574 VEGA Gene Model | MGI Sequence Detail 34577 C57BL/6J ±  kb
    transcript OTTMUST00000054076 VEGA | MGI Sequence Detail 2773 Not Applicable  
    polypeptide OTTMUSP00000025755 VEGA | MGI Sequence Detail 394 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      407 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 34
      Genomic 12
      cDNA 22

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1914867, MGI:2142659, MGI:2142719
    References
    more
    • Summaries
      All 44
      Developmental Gene Expression 5
      Diseases 2
      Gene Ontology 5
      Phenotypes 11
    • Earliest
      J:48336 Li CM, et al., Cloning and characterization of the full-length cDNA and genomic sequences encoding murine acid ceramidase. Genomics. 1998 Jun 1;50(2):267-74
    • Latest
      J:257454 Yu FPS, et al., Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency. Am J Physiol Lung Cell Mol Physiol. 2018 Mar 1;314(3):L406-L420

    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
    06/12/2018
    MGI 6.12
    The Jackson Laboratory