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; chr8:17913925-17942507 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human ASAH1

Alleles and phenotypes

All alleles(35) : Targeted(1) 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	lysosome
Function	ceramidase activity, hydrolase activity

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (143)    Tissues (124)    Images (34)
Theiler Stages: 19, 22, 23, 28

Assay Type	Results
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 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 Knockout Project Status	Asah1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000022574	VEGA Gene Model | MGI Sequence Detail	34577	C57BL/6J
transcript	OTTMUST00000054076	VEGA | MGI Sequence Detail	2773	Not Applicable
polypeptide	OTTMUSP00000025755	VEGA | MGI Sequence Detail	394	Not Applicable

All sequences(57) RefSeq(2) UniProt(7)

Polymorphisms

SNPs(218 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:189246 Lucki NC, et al., Acid Ceramidase (ASAH1) Represses Steroidogenic Factor 1-Dependent Gene Transcription in H295R Human Adrenocortical Cells by Binding to the Receptor. Mol Cell Biol. 2012 Nov;32(21):4419-31
All references(39)

Other accession IDs

MGI:1914867, MGI:2142659, MGI:2142719