Asah1 N-acylsphingosine amidohydrolase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Asah1provided by MGI
Official Full Name: N-acylsphingosine amidohydrolase 1provided by MGI
Primary source: MGI:MGI:1277124
See related: Ensembl:ENSMUSG00000031591 AllianceGenome:MGI:1277124
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: AC; Asah; 2310081N20Rik
Summary: This gene encodes acid ceramidase, an enzyme that plays a central role in ceramide metabolism. The encoded protein undergoes proteolytic processing to generate a heterodimeric enzyme comprised of alpha and beta subunits that catalyzes the hydrolysis of sphingolipid ceramide into sphingosine and free fatty acid. The homozygous disruption of this gene leads to embryonic lethality in mice whereas the heterozygous animals exhibit a progressive lipid storage disease phenotype. [provided by RefSeq, Oct 2015]
Expression: Ubiquitous expression in placenta adult (RPKM 17.8), bladder adult (RPKM 17.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 A4; 8 23.89 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (41793683..41850681, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (41340646..41397644, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Abnormal podocyte TRPML1 channel activity and exosome release in mice with podocyte-specific Asah1 gene deletion.
Title: Abnormal podocyte TRPML1 channel activity and exosome release in mice with podocyte-specific Asah1 gene deletion.
Arterial Medial Calcification through Enhanced small Extracellular Vesicle Release in Smooth Muscle-Specific Asah1 Gene Knockout Mice.
Title: Arterial Medial Calcification through Enhanced small Extracellular Vesicle Release in Smooth Muscle-Specific Asah1 Gene Knockout Mice.
Lack of aCDase in macrophage cultures or in Asah1(-/-) mice results in replication of HSV-1 and Asah1(-/-) mice die soon after systemic or intravaginal inoculation.
Title: Acid ceramidase of macrophages traps herpes simplex virus in multivesicular bodies and protects from severe disease.
Although no significant morphologic changes in glomeruli were observed in these podocyte-specific knockout mice, severe proteinuria and albuminuria were found compared with control littermates. TEM analysis showed that podocytes of the knockout mice had distinctive foot process effacement and microvillus formation.
Title: Podocytopathy and Nephrotic Syndrome in Mice with Podocyte-Specific Deletion of the Asah1 Gene: Role of Ceramide Accumulation in Glomeruli.
Endothelium-specific acid ceramidase (AC) gene knockout mice (Asah1(fl/fl)/EC(cre)) significantly enhanced the formation and activation of NLRP3 inflammasomes in coronary arterial endothelial cells.
Title: Endothelial acid ceramidase in exosome-mediated release of NLRP3 inflammasome products during hyperglycemia: Evidence from endothelium-specific deletion of Asah1 gene.
Asah1(P361R/P361R) mice exhibit progressive retinal and optic nerve pathology. Through noninvasive ocular imaging and histopathological analyses of these Asah1(P361R/P361R) animals, we revealed progressive inflammation, the presence of retinal dysplasia, and significant storage pathology in various cell types in both the retina and optic nerves.
Title: Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment.
Results suggest that acid ceramidase products within podocytes have inhibitory effects on the Panx1 channel activity.
Title: Inhibition of pannexin-1 channel activity by adiponectin in podocytes: Role of acid ceramidase activation.
results demonstrate a tissue-specific role for AC in regulating neutrophilic inflammation and cytokine production.
Title: Loss of acid ceramidase in myeloid cells suppresses intestinal neutrophil recruitment.
Low ASAH1 expression is associated with Chronic lung injury.
Title: Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency.
cells deficient in acid ceramidase (aCDase) also exhibited defects in CCL5 induction, whereas cells deficient in sphingosine kinase-1 and -2 exhibited higher levels of CCL5.
Title: Regulation of CC ligand 5/RANTES by acid sphingomyelinase and acid ceramidase.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (7) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU044555 (e-PCR)
- UniSTS:159758

RH125381 (e-PCR)
- UniSTS:162203

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables N-acylsphingosine amidohydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables N-acylsphingosine amidohydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables N-acylsphingosine amidohydrolase activity	ISO Inferred from Sequence Orthology more info
enables ceramidase activity	IEA Inferred from Electronic Annotation more info
enables fatty acid amide hydrolase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	ISO Inferred from Sequence Orthology more info
enables nuclear receptor binding	ISO Inferred from Sequence Orthology more info
enables transcription corepressor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cellular response to tumor necrosis factor	IDA Inferred from Direct Assay more info	PubMed
involved_in ceramide biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in ceramide catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in ceramide catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ceramide catabolic process	ISO Inferred from Sequence Orthology more info
involved_in fatty acid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in keratinocyte differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in lung development	ISO Inferred from Sequence Orthology more info
involved_in regulation of programmed necrotic cell death	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of steroid biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in response to organic substance	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sphingolipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in sphingosine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in sphingosine biosynthetic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: acid ceramidase

Names: ACDase; N-acylethanolamine hydrolase ASAH1; acid CDase; acylsphingosine deacylase

NP_062708.1

EC 3.5.1.23

XP_017168016.1

EC 3.5.1.23

XP_017168017.1

EC 3.5.1.23

XP_017168019.1

EC 3.5.1.23

XP_017168020.1

EC 3.5.1.23

XP_017168021.1

EC 3.5.1.23

XP_017168022.1

EC 3.5.1.23

XP_017168023.1

EC 3.5.1.23

XP_017168024.1

EC 3.5.1.23

XP_017168025.1

EC 3.5.1.23

XP_030099113.1

EC 3.5.1.23

XP_036009623.1

EC 3.5.1.23

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_019734.3 → NP_062708.1 acid ceramidase preproprotein

See identical proteins and their annotated locations for NP_062708.1

Status: REVIEWED

Source sequence(s)

AK151478, AW124297, BY160973

Consensus CDS

CCDS22262.1

UniProtKB/Swiss-Prot

Q9WV54

UniProtKB/TrEMBL

Q3TWT5, Q3U646, Q3U8A7, Q78P93

Related

ENSMUSP00000034000.9, ENSMUST00000034000.15

Conserved Domains (2) summary

cd01903
Location:133 → 378

Ntn_AC_NAAA; AC_NAAA This conserved domain includes two closely related proteins, acid ceramidase (AC, also known as N-acylsphingosine amidohydrolase), and N-acylethanolamine-hydrolyzing acid amidase (NAAA). AC catalyzes the hydrolysis of ceramide to sphingosine and ...

pfam15508
Location:45 → 107

NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

41793683..41850681 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036153730.1 → XP_036009623.1 acid ceramidase isoform X2

Conserved Domains (1) summary

cd01903
Location:41 → 286

Ntn_AC_NAAA; AC_NAAA This conserved domain includes two closely related proteins, acid ceramidase (AC, also known as N-acylsphingosine amidohydrolase), and N-acylethanolamine-hydrolyzing acid amidase (NAAA). AC catalyzes the hydrolysis of ceramide to sphingosine and ...
XM_017312534.1 → XP_017168023.1 acid ceramidase isoform X2

Conserved Domains (1) summary

cd01903
Location:41 → 286

Ntn_AC_NAAA; AC_NAAA This conserved domain includes two closely related proteins, acid ceramidase (AC, also known as N-acylsphingosine amidohydrolase), and N-acylethanolamine-hydrolyzing acid amidase (NAAA). AC catalyzes the hydrolysis of ceramide to sphingosine and ...
XM_017312532.2 → XP_017168021.1 acid ceramidase isoform X1

UniProtKB/Swiss-Prot

Q9WV54

UniProtKB/TrEMBL

Q3TWT5, Q3U646, Q3U8A7, Q78P93

Conserved Domains (2) summary

cd01903
Location:133 → 378

Ntn_AC_NAAA; AC_NAAA This conserved domain includes two closely related proteins, acid ceramidase (AC, also known as N-acylsphingosine amidohydrolase), and N-acylethanolamine-hydrolyzing acid amidase (NAAA). AC catalyzes the hydrolysis of ceramide to sphingosine and ...

pfam15508
Location:45 → 107

NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase
XM_017312530.2 → XP_017168019.1 acid ceramidase isoform X1

UniProtKB/Swiss-Prot

Q9WV54

UniProtKB/TrEMBL

Q3TWT5, Q3U646, Q3U8A7, Q78P93

Conserved Domains (2) summary

cd01903
Location:133 → 378

Ntn_AC_NAAA; AC_NAAA This conserved domain includes two closely related proteins, acid ceramidase (AC, also known as N-acylsphingosine amidohydrolase), and N-acylethanolamine-hydrolyzing acid amidase (NAAA). AC catalyzes the hydrolysis of ceramide to sphingosine and ...

pfam15508
Location:45 → 107

NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase
XM_017312533.1 → XP_017168022.1 acid ceramidase isoform X2

Conserved Domains (1) summary

cd01903
Location:41 → 286

Ntn_AC_NAAA; AC_NAAA This conserved domain includes two closely related proteins, acid ceramidase (AC, also known as N-acylsphingosine amidohydrolase), and N-acylethanolamine-hydrolyzing acid amidase (NAAA). AC catalyzes the hydrolysis of ceramide to sphingosine and ...
XM_017312528.2 → XP_017168017.1 acid ceramidase isoform X1

UniProtKB/Swiss-Prot

Q9WV54

UniProtKB/TrEMBL

Q3TWT5, Q3U646, Q3U8A7, Q78P93

Conserved Domains (2) summary

cd01903
Location:133 → 378

Ntn_AC_NAAA; AC_NAAA This conserved domain includes two closely related proteins, acid ceramidase (AC, also known as N-acylsphingosine amidohydrolase), and N-acylethanolamine-hydrolyzing acid amidase (NAAA). AC catalyzes the hydrolysis of ceramide to sphingosine and ...

pfam15508
Location:45 → 107

NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase
XM_017312527.2 → XP_017168016.1 acid ceramidase isoform X1

UniProtKB/Swiss-Prot

Q9WV54

UniProtKB/TrEMBL

Q3TWT5, Q3U646, Q3U8A7, Q78P93

Conserved Domains (2) summary

cd01903
Location:133 → 378

Ntn_AC_NAAA; AC_NAAA This conserved domain includes two closely related proteins, acid ceramidase (AC, also known as N-acylsphingosine amidohydrolase), and N-acylethanolamine-hydrolyzing acid amidase (NAAA). AC catalyzes the hydrolysis of ceramide to sphingosine and ...

pfam15508
Location:45 → 107

NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase
XM_017312535.1 → XP_017168024.1 acid ceramidase isoform X2

Conserved Domains (1) summary

cd01903
Location:41 → 286

Ntn_AC_NAAA; AC_NAAA This conserved domain includes two closely related proteins, acid ceramidase (AC, also known as N-acylsphingosine amidohydrolase), and N-acylethanolamine-hydrolyzing acid amidase (NAAA). AC catalyzes the hydrolysis of ceramide to sphingosine and ...
XM_017312531.2 → XP_017168020.1 acid ceramidase isoform X1

UniProtKB/Swiss-Prot

Q9WV54

UniProtKB/TrEMBL

Q3TWT5, Q3U646, Q3U8A7, Q78P93

Conserved Domains (2) summary

cd01903
Location:133 → 378

Ntn_AC_NAAA; AC_NAAA This conserved domain includes two closely related proteins, acid ceramidase (AC, also known as N-acylsphingosine amidohydrolase), and N-acylethanolamine-hydrolyzing acid amidase (NAAA). AC catalyzes the hydrolysis of ceramide to sphingosine and ...

pfam15508
Location:45 → 107

NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase
XM_017312536.1 → XP_017168025.1 acid ceramidase isoform X2

Conserved Domains (1) summary

cd01903
Location:41 → 286

Ntn_AC_NAAA; AC_NAAA This conserved domain includes two closely related proteins, acid ceramidase (AC, also known as N-acylsphingosine amidohydrolase), and N-acylethanolamine-hydrolyzing acid amidase (NAAA). AC catalyzes the hydrolysis of ceramide to sphingosine and ...
XM_030243253.1 → XP_030099113.1 acid ceramidase isoform X1

UniProtKB/Swiss-Prot

Q9WV54

UniProtKB/TrEMBL

Q3TWT5, Q3U646, Q3U8A7, Q78P93

Conserved Domains (2) summary

cd01903
Location:133 → 378

Ntn_AC_NAAA; AC_NAAA This conserved domain includes two closely related proteins, acid ceramidase (AC, also known as N-acylsphingosine amidohydrolase), and N-acylethanolamine-hydrolyzing acid amidase (NAAA). AC catalyzes the hydrolysis of ceramide to sphingosine and ...

pfam15508
Location:45 → 107

NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase