SMPD4 Gene Summary [Human]
The protein encoded by this gene is a sphingomyelinase that catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide. This gene is activated by DNA damage, cellular stress, and tumor necrosis factor, but it is downregulated by wild-type p53. The encoded protein localizes to the endoplasmic reticulum and Golgi network. [provided by RefSeq, Mar 2017]
Details
| Type | Protein Coding |
| Official Symbol | SMPD4 |
| Official Name | sphingomyelin phosphodiesterase 4 [Source:HGNC Symbol;Acc:HGNC:32949] |
| Ensembl ID | ENSG00000136699 |
| Bio databases IDs | |
| Aliases | sphingomyelin phosphodiesterase 4, neutral sphingomyelinase-3 |
| Synonyms | 4122402O22Rik, NEDMABA, NEDMEBA, NET13, NSMASE-3, RGD1310674, SKNY, sphingomyelin phosphodiesterase 4 |
| 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 SMPD4 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
- sphingomyelin phosphodiesterase
- enzyme
- Mitochondrial-associated sphingomyelin phosphodiesterase
Pathways
Biological processes and signaling networks where the SMPD4 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
- neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies
- hereditary disorder
- allergic rhinitis
regulates
- IL6
- ceramide
- sphingomyelin
- glycerophospholipid
role in cell
- apoptosis
- organization
- response by
- permeabilization
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
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- trans Golgi network
- perinuclear space
- outer nuclear membrane
- nuclear envelope
- sarcolemma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SMPD4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycerophospholipid catabolic process
- ceramide biosynthetic process
- sphingomyelin catabolic process
- cellular response to tumor necrosis factor
- endoplasmic reticulum organization
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- nuclear envelope
- trans-Golgi network
- sarcolemma
- Golgi apparatus
- endoplasmic reticulum
- nuclear outer membrane
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- sphingomyelin phosphodiesterase activity
- metal ion binding
- sphingomyelin phosphodiesterase D activity