Asah1 Gene Summary [Mouse]
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]
Details
| Type | Protein Coding |
| Official Symbol | Asah1 |
| Official Name | N-acylsphingosine amidohydrolase 1 [Source:MGI Symbol;Acc:MGI:1277124] |
| Ensembl ID | ENSMUSG00000031591 |
| Bio databases IDs | |
| Aliases | N-acylsphingosine amidohydrolase 1 |
| Synonyms | 2310081N20Rik, AC, Acid Ceramidase, ASAH, N-acylsphingosine amidohydrolase 1, PHP, PHP32, SMAPME |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Asah1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ntn_hydrolase
- ligand-dependent nuclear receptor interactor
- linear amide carbon-nitrogen bond hydrolase
- transcription co-repressor
- beta subunit of N-acylethanolamine-hydrolyzing acid amidase
- enzyme
- protein binding
- ceramidase
- Linear amide C-N hydrolases, choloylglycine hydrolase family
Pathways
Biological processes and signaling networks where the Asah1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- non-insulin-dependent diabetes mellitus
- atrial fibrillation
- obesity
- Farber disease
- neonatal late-onset sepsis
- hereditary disorder
- spinal muscular atrophy with progressive myoclonic epilepsy
- cystic fibrosis
- benign rolandic epilepsy
role in cell
- differentiation
- expression in
- proliferation
- apoptosis
- growth
- cell viability
- accumulation in
- induction in
- phosphorylation in
- blebbing
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- ficolin-1-rich granule lumen
- Extracellular Space
- organelle lumens
- cellular membrane
- cell cortex
- Nucleus
- lysosome
- Mitochondria
- lysosomal compartment
- late endosomes
- phagosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Asah1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- keratinocyte differentiation
- sphingosine biosynthetic process
- ceramide biosynthetic process
- cellular response to tumor necrosis factor
- regulation of steroid biosynthetic process
- ceramide catabolic process
- fatty acid metabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular space
- early endosome
- extracellular vesicular exosome
- lysosomal lumen
- endoplasmic reticulum
- extracellular region
- lysosome
Molecular Function
What the gene product does at the molecular level
- hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides
- protein binding
- ceramidase activity
- fatty acid amide hydrolase activity