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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; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: ASAH1
Protein SuperFamily: acid ceramidase
Gene Tree: Asah1

Human
homologs
ASAH1, N-acylsphingosine amidohydrolase (acid ceramidase) 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 427
neXtProt AC: NX_Q13510

Human Synonyms: AC, ACDase, ASAH, PHP, PHP32, SMAPME

Human Chr (Location): 8p22; chr8:18056416-18084998 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human ASAH1

Mutations,
alleles, and
phenotypes
All mutations/alleles(36) : Gene trapped(34) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
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 in Mice Using Asah1 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Asah1 interacts with 244 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (9 annotations)
Process lipid metabolic process, lung development, ...
Component extracellular exosome, extracellular space, ...
Function ceramidase activity, hydrolase activity
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (143)    Tissues (124)    Images (34)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 143
cDNA source data(21)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase asah1 ; ZFIN asah1a, asah1b    NEW 
Molecular
reagents
All nucleic(34) Genomic(12) cDNA(22)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000022574 (Evidence)
Ensembl Gene Model ENSMUSG00000031591 (Evidence)
Entrez Gene 11886 (Evidence)
DFCI TC1572953, TC1590076
DoTS DT.101355508, DT.94250814, DT.97398277
NIA Mouse Gene Index U029757
EC 3.5.1.23
Consensus CDS Project CCDS22262.1
International Mouse Phenotyping Consortium Status Asah1
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
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(41)
Disease annotation references (1)
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
08/18/2015
MGI 6.0
The Jackson Laboratory