SMPD3 Gene Summary [Human]
Predicted to enable phosphatidic acid binding activity; phosphatidylserine binding activity; and sphingomyelin phosphodiesterase activity. Predicted to be involved in positive regulation of exosomal secretion and sphingomyelin metabolic process. Predicted to act upstream of or within several processes, including animal organ development; enzyme linked receptor protein signaling pathway; and sphingolipid metabolic process. Predicted to be located in Golgi apparatus and plasma membrane. Predicted to be active in cytoplasm. Biomarker of pulmonary emphysema. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | SMPD3 |
| Official Name | sphingomyelin phosphodiesterase 3 [Source:HGNC Symbol;Acc:HGNC:14240] |
| Ensembl ID | ENSG00000103056 |
| Bio databases IDs | |
| Aliases | sphingomyelin phosphodiesterase 3, neutral sphingomyelinase II |
| Synonyms | 4631433G07Rik, AI427456, AW537966, cca1, FLJ22593, fro, Nsm2, NSMASE2, sphingomyelin phosphodiesterase 3, sphingomyelin phosphodiesterase 3, neutral |
| 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 SMPD3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phospholipid binding
- binding protein
- sphingomyelin phosphodiesterase
- Exonuclease-Endonuclease-Phosphatase (EEP) domain superfamily
- Endonuclease/Exonuclease/phosphatase family
- enzyme
- protein binding
- identical protein binding
- phosphoric diester hydrolase
Pathways
Biological processes and signaling networks where the SMPD3 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
- COVID-19
- schizophrenia
- chronic obstructive pulmonary disease
- ovarian carcinoma
- epithelial ovarian cancer
- dentinogenesis imperfecta
- metastasis
- metabolic syndrome X
- growth failure
role in cell
- expression in
- phosphorylation in
- activation
- proliferation
- activation in
- apoptosis
- differentiation
- number
- assembly
- quantity
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
- detergent-insoluble fractions
- membrane fraction
- cell periphery
- Plasma Membrane
- Golgi Apparatus
- intercellular junctions
- Golgi membrane
- Golgi cisternae
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SMPD3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organism growth
- regulation of cartilage development
- polysaccharide transport
- peptide hormone secretion
- sphingomyelin metabolic process
- sphingomyelin catabolic process
- extracellular matrix assembly
- positive regulation of mitosis
- hemopoietic progenitor cell differentiation
- chondrocyte development involved in endochondral bone morphogenesis
- regulation of leukocyte migration
- positive regulation of smooth muscle cell proliferation
- dentinogenesis
- lung alveolus development
- BMP signaling pathway
- DNA biosynthetic process
- cellular response to tumor necrosis factor
- cellular response to hydrogen peroxide
- collagen metabolic process
- bone mineralization
- platelet-derived growth factor receptor signaling pathway
- negative regulation of hyaluronan biosynthetic process
- ceramide metabolic process
- cellular response to redox state
- regulation of protein phosphorylation
- cellular response to magnesium ion
- endochondral ossification
- G1 to G0 transition
- negative regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- Golgi membrane
- extracellular region
- Golgi cis cisterna
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- phosphatidylserine binding
- identical protein binding
- sphingomyelin phosphodiesterase activity
- protein binding
- metal ion binding
- phosphatidic acid binding
- phosphoric diester hydrolase activity