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Asah1
Gene Detail
 Symbol
Name
ID
Asah1
N-acylsphingosine amidohydrolase 1
MGI:1277124
Synonyms 2310081N20Rik, acid ceramidase
Feature Type protein coding gene
Genetic Map
Chromosome 8
23.89 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr8:41340197-41374773 bp, - strand
From VEGA annotation of GRCm38

  34577 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10504  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 2 zebrafish

Protein SuperFamily: acid ceramidase
Gene Tree: Asah1

Human
homologs
Human Homolog ASAH1, N-acylsphingosine amidohydrolase (acid ceramidase) 1
NCBI Gene ID 427
neXtProt AC  NX_Q13510
Human Synonyms  AC, ACDase, ASAH, PHP, PHP32, SMAPME
Human Chr (Location)  8p22; chr8:18056416-18084998 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human ASAH1
Alleles
and
phenotypes
All alleles(36) : Targeted(2) Gene trapped(34)
 
Homozygous null mutation of this gene results in embryonic lethality. Beginning at 6 months of age, heterozygous mutant livers appear pale and fibrous and show accumulation of lipids throughout the parenchyma. Liver ceramide levels are elevated by 2-fold.
 
Human Diseases Modeled Using Mouse Asah1 (1)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (9 annotations)
Process lipid metabolic process, lung development, ...
Component extracellular vesicular exosome, lysosome
Function ceramidase activity, hydrolase activity
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (143)    Tissues (124)    Images (34)
Theiler Stages: 19, 22, 23, 28
Assay TypeResults
RNA in situ 143
cDNA source data(21)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(34) Genomic(12) cDNA(22)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000022574 (Evidence)
Ensembl Gene ModelENSMUSG00000031591 (Evidence)
Entrez Gene11886 (Evidence)
DFCITC1572953, TC1590076
DoTSDT.101355508, DT.94250814, DT.97398277
NIA Mouse Gene IndexU029757
EC3.5.1.23
Consensus CDS ProjectCCDS22262.1
International Mouse Knockout Project StatusAsah1
Sequences
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 sequences
All sequences(57) RefSeq(2) UniProt(7)
Polymorphisms SNPs within 2kb(415 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR016699 Acid ceramidase-like
InterPro IPR003199 Choloylglycine hydrolase
Protein Ontology PR:000004336 acid ceramidase
References (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:199833 Gulbins E, et al., Acid sphingomyelinase-ceramide system mediates effects of antidepressant drugs. Nat Med. 2013 Jul;19(7):934-8
All references(42)
Other
accession IDs
MGI:1914867, MGI:2142659, MGI:2142719

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory