SMPD1 Gene Summary [Human]
The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
Details
| Type | Protein Coding |
| Official Symbol | SMPD1 |
| Official Name | sphingomyelin phosphodiesterase 1 [Source:HGNC Symbol;Acc:HGNC:11120] |
| Ensembl ID | ENSG00000166311 |
| Bio databases IDs | |
| Aliases | sphingomyelin phosphodiesterase 1, acid sphingomyelinase, Niemann-Pick type A/B |
| Synonyms | Acidic sphingomyelinase, Acid smase, Alkaline SMase, ASM, ASMASE, NPD, Smase, sphingomyelin phosphodiesterase 1, sphingomyelin phosphodiesterase 1, acid lysosomal, Zn-SMase |
| 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 SMPD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- sphingomyelin phosphodiesterase D
- Acid sphingomyelin phosphodiesterase C-terminal region
- zinc ion binding
- sphingomyelin phosphodiesterase
- enzyme
- metallophosphatase superfamily, metallophosphatase domain
- protein binding
- Saposin (B) Domains
- Calcineurin-like phosphoesterase
- phosphorylation site
Pathways
Biological processes and signaling networks where the SMPD1 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
- neoplasia
- Alzheimer disease
- fibrosis
- obesity
- pancreatic epithelial cancer
- Niemann-Pick disease
- Niemann-Pick disease type A
- Niemann-Pick disease type B
- Wilson disease
- allergic rhinitis
role in cell
- activation in
- expression in
- growth
- apoptosis
- phosphorylation in
- proliferation
- survival
- activity
- formation
- formation in
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
- intracellular compartment
- endoplasmic reticulum/Golgi membrane network
- Extracellular Space
- intracellular space
- inner membrane
- Plasma Membrane
- endosomes
- vesicles
- lysosome
- cytosol
- outer leaflet
- lysosomal compartment
- endosomal compartment
- alveolar epithelial lamellar bodies
- endolysosomes
- perikaryon
- phagosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SMPD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- viral entry into host cell
- negative regulation of MAP kinase activity
- positive regulation of endocytosis
- glycosphingolipid catabolic process
- sphingomyelin metabolic process
- cholesterol metabolic process
- nervous system development
- ceramide biosynthetic process
- sphingomyelin catabolic process
- positive regulation of viral entry into host cell
- response to xenobiotic stimulus
- response to virus
- termination of signal transduction
- wound healing
- cellular response to calcium ion
- cellular response to UV
- response to ionizing radiation
- signal transduction
- response to type I interferon
- response to cocaine
- plasma membrane repair
- positive regulation of apoptotic process
- response to interleukin-1
- positive regulation of protein dephosphorylation
- response to tumor necrosis factor
Cellular Component
Where in the cell the gene product is active
- lipid particle
- extracellular space
- extracellular vesicular exosome
- endosome
- lysosomal lumen
- lamellar body
- plasma membrane
- lysosome
- endolysosome
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- phosphatidylcholine phospholipase C activity
- protein binding
- sphingomyelin phosphodiesterase activity
- hydrolase activity, acting on glycosyl bonds