CERS1 Gene Summary [Human]
This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated with increased longevity, while decreased expression of this gene may be associated with myoclonus epilepsy with dementia in human patients. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]
Details
| Type | Protein Coding |
| Official Symbol | CERS1 |
| Official Name | ceramide synthase 1 [Source:HGNC Symbol;Acc:HGNC:14253] |
| Ensembl ID | ENSG00000223802 |
| Bio databases IDs | |
| Aliases | ceramide synthase 1 |
| Synonyms | ceramide synthase 1, EPM8, GDF-1, LAG1, LASS1, to, UOG1 |
| 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 CERS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- TLC domain
- sphingosine N-acyltransferase
- N-acyltransferase
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- progressive myoclonic epilepsy type 8
- astrocytosis
- progressive myoclonic epilepsy
- lipofuscinosis
- hypoplasia
role in cell
- growth
- cell death
- apoptosis
- accumulation
- degeneration
- response by
- number
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 membrane-bounded organelle
- cellular membrane
- Endoplasmic Reticulum
- Mitochondria
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CERS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular response to mycotoxin
- cellular response to UV-A
- ceramide biosynthetic process
- cellular response to xenobiotic stimulus
- cellular response to dithiothreitol
- negative regulation of telomerase activity
- sphingolipid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- intracellular membrane-bounded organelle
- membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- sphingosine N-acyltransferase activity