ASAH1 Gene Summary [Human]
This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]
Details
| Type | Protein Coding |
| Official Symbol | ASAH1 |
| Official Name | N-acylsphingosine amidohydrolase 1 [Source:HGNC Symbol;Acc:HGNC:735] |
| Ensembl ID | ENSG00000104763 |
| Bio databases IDs | |
| Aliases | N-acylsphingosine amidohydrolase 1, acylsphingosine deacylase, acid ceramidase |
| Synonyms | 2310081N20Rik, AC, Acid Ceramidase, ASAH, N-acylsphingosine amidohydrolase 1, PHP, PHP32, SMAPME |
| Species | Human, Homo sapiens |
| 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 human 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 human 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 human 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