SGMS1 Gene Summary [Human]
The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | SGMS1 |
| Official Name | sphingomyelin synthase 1 [Source:HGNC Symbol;Acc:HGNC:29799] |
| Ensembl ID | ENSG00000198964 |
| Bio databases IDs | |
| Aliases | sphingomyelin synthase 1, phosphatidylcholine:ceramide cholinephosphotransferase 1 |
| Synonyms | 9530058O11Rik, hmob33, MOB, MOB1, SMS1, Sor1, sphingomyelin synthase 1, TMEM23 |
| 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 SGMS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Sterile alpha motif
- substituted phosphate group transferase
- ceramide cholinephosphotransferase
- SAM (Sterile alpha motif )
- PAP2 superfamily C-terminal
- enzyme
- sphingomyelin synthase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- lymphoma
- hyperglycemia
- dermatitis
- lymphomagenesis
role in cell
- phosphorylation in
- apoptosis
- proliferation
- hyperpolarization
- growth
- production in
- quantity
- abnormal morphology
- phagocytosis by
- incorporation 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
- Nucleus
- Plasma Membrane
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- Golgi membrane
- Golgi cisternae
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SGMS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of intrinsic apoptotic signaling pathway
- apoptotic process
- ceramide biosynthetic process
- sphingomyelin biosynthetic process
- sphingolipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- nucleus
- membrane
- endoplasmic reticulum
- Golgi membrane
- Golgi trans cisterna
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ceramide cholinephosphotransferase activity
- sphingomyelin synthase activity
- kinase activity