SMPDL3B Gene Summary [Human]
Enables phosphoric diester hydrolase activity. Predicted to be involved in membrane lipid catabolic process; negative regulation of inflammatory response; and negative regulation of toll-like receptor signaling pathway. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | SMPDL3B |
| Official Name | sphingomyelin phosphodiesterase acid like 3B [Source:HGNC Symbol;Acc:HGNC:21416] |
| Ensembl ID | ENSG00000130768 |
| Bio databases IDs | |
| Aliases | sphingomyelin phosphodiesterase acid like 3B |
| Synonyms | 1110054A24Rik, ASML3B, sphingomyelin phosphodiesterase acid like 3B, sphingomyelin phosphodiesterase, acid-like 3B |
| 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 SMPDL3B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Acid sphingomyelin phosphodiesterase C-terminal region
- zinc ion binding
- enzyme
- protein binding
- metallophosphatase superfamily, metallophosphatase domain
- phosphoric diester hydrolase
Pathways
Biological processes and signaling networks where the SMPDL3B 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
- lymphomagenesis
- desmoplastic small round cell tumor
- soft tissue sarcoma cancer
- astigmatism
- Moyamoya disease
- lymphoma
- severe acute respiratory syndrome
role in cell
- phosphorylation in
- apoptosis
- molecular cleavage in
- double-stranded DNA break repair 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.
- Extracellular Space
- Plasma Membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SMPDL3B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- inflammatory response
- negative regulation of toll-like receptor signaling pathway
- innate immune response
- negative regulation of inflammatory response
- sphingomyelin catabolic process
- membrane lipid catabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular vesicular exosome
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- sphingomyelin phosphodiesterase activity
- phosphoric diester hydrolase activity
- hydrolase activity, acting on glycosyl bonds