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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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:41793234-41827810 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 23.89 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    437 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1277124
 protein coding gene Chr8:41793234-41850681 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033562
 protein coding gene Chr8:40173170-40211379 (-)
A/J MGP_AJ_G0033545
 protein coding gene Chr8:38652334-38693958 (-)
AKR/J MGP_AKRJ_G0033468
 protein coding gene Chr8:39811329-39849801 (-)
BALB/cJ MGP_BALBcJ_G0033540
 protein coding gene Chr8:38769722-38802831 (-)
C3H/HeJ MGP_C3HHeJ_G0033250
 protein coding gene Chr8:40205919-40240812 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034056
 protein coding gene Chr8:41700279-41736906 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031005
 protein coding gene Chr8:35297449-35330994 (-)
CAST/EiJ MGP_CASTEiJ_G0032578
 protein coding gene Chr8:39705350-39741640 (-)
CBA/J MGP_CBAJ_G0033228
 protein coding gene Chr8:43411321-43455732 (-)
DBA/2J MGP_DBA2J_G0033382
 protein coding gene Chr8:38477391-38511057 (-)
FVB/NJ MGP_FVBNJ_G0033326
 protein coding gene Chr8:38063420-38102453 (-)
LP/J MGP_LPJ_G0033471
 protein coding gene Chr8:40214466-40252410 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033368
 protein coding gene Chr8:43196379-43244990 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034074
 protein coding gene Chr8:39970365-40010769 (-)
PWK/PhJ MGP_PWKPhJ_G0032287
 protein coding gene Chr8:38027365-38061898 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032119
 protein coding gene Chr8:39136162-39170307 (-)
WSB/EiJ MGP_WSBEiJ_G0032693
 protein coding gene Chr8:40175720-40212785 (-)



Homology
more
  • Human Ortholog
    ASAH1, N-acylsphingosine amidohydrolase 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ASAH1, N-acylsphingosine amidohydrolase 1
  • Synonyms
    AC, ACDase, ASAH, PHP, PHP32, SMAPME
  • Links
    NCBI Gene ID: 427
    neXtProt AC: NX_Q13510
    UniProt: Q13510

  • Chr Location
    8p22; chr8:18055992-18084998 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Asah1 mouse models; 3 with human ASAH1 associations

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

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    76 phenotypes from 4 alleles in 4 genetic backgrounds
    3 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.
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
less
  • All GO Annotations
    32
  • GO References
    10
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
    855
  • Tissues
    128
  • cDNA Data
    23
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031591 Ensembl Gene Model | MGI Sequence Detail 34577 C57BL/6J ±  kb
    transcript ENSMUST00000034000 Ensembl | MGI Sequence Detail 2773 Not Applicable  
    polypeptide ENSMUSP00000034000 Ensembl | MGI Sequence Detail 394 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 37
      Genomic 12
      cDNA 24
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1914867, MGI:2142659, MGI:2142719
    References
    more
    • Summaries
      All 67
      Developmental Gene Expression 6
      Diseases 3
      Gene Ontology 10
      Phenotypes 29
    • 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:340985 Yuan X, et al., Contribution of Hepatic Steatosis-Intensified Extracellular Vesicle Release to Aggravated Inflammatory Endothelial Injury in Liver-Specific Asah1 Gene Knockout Mice. Am J Pathol. 2023 Apr;193(4):493-508
    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