CERS1: Ceramide Synthase 1
Key enzyme in sphingolipid metabolism and neurological function
Gene Information Card
| Symbol | CERS1 |
|---|---|
| Full Name | Ceramide synthase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 10715 ncbi.nlm.nih.gov/gene/10715 |
| Ensembl ID | ENSG00000104814 |
| UniProt ID | P27544 |
| OMIM ID | 606919 |
| HGNC ID | 2375 |
| Aliases | LASS1, UOG1, FLJ21588 |
Description
CERS1 encodes ceramide synthase 1, an enzyme that catalyzes the synthesis of ceramides, specifically C18-ceramide, by acylating sphinganine. Ceramides are key intermediates in sphingolipid metabolism and act as signaling molecules involved in cell differentiation, proliferation, and apoptosis. CERS1 is highly expressed in the brain and mutations in this gene are associated with progressive myoclonic epilepsy type 7 (EPM7).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Progressive myoclonic epilepsy 7 (EPM7) | Loss-of-function mutations in CERS1 reduce C18-ceramide synthesis, disrupting neuronal sphingolipid homeostasis and leading to neurodegeneration and epilepsy. | OMIM #616230; ClinVar |
| Epilepsy, progressive myoclonic, 7A with or without neurodegeneration | Same mechanism as EPM7; biallelic mutations cause early-onset seizures and progressive neurological decline. | OMIM #616230; PubMed 24482476 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Testis | 6.2 | Medium |
| Adrenal gland | 4.1 | Medium |
| Liver | 2.3 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HEK293 (embryonic kidney) | 3.1 | Low expression |
| HepG2 (hepatocellular carcinoma) | 2.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.988C>T (p.Arg330*) | Nonsense | Rare | Loss of function; associated with EPM7 |
| c.125C>T (p.Thr42Met) | Missense | Rare | Reduced enzyme activity; reported in epilepsy patients |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein; pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, reducing ceramide synthase activity.
Gain of Function (GOF)
Not reported for CERS1.
Dominant Negative (DN)
Not reported for CERS1.
View complete mutation data：
Gene Ontology (GO)
| • transferase activity (GO:0016747) | • protein kinase C binding (GO:0017013) |
| • sphingolipid biosynthetic process (GO:0030148) | • ceramide biosynthetic process (GO:0006672) |
| • endoplasmic reticulum (GO:0005783) |
Pathways
• Sphingolipid metabolism (Reactome R-HSA-428157)
• Ceramide de novo synthesis (KEGG map00600)
Protein Summary
Ceramide synthase 1 (CERS1) is a 383-amino acid transmembrane protein localized to the endoplasmic reticulum. It catalyzes the formation of dihydroceramide from sphinganine and acyl-CoA, with a strong preference for stearoyl-CoA (C18). CERS1 is essential for the production of C18-ceramide, a critical sphingolipid in neuronal membranes. Loss of function leads to ceramide deficiency and progressive myoclonic epilepsy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CERS1 Knockout HEK293 Cell Line | EDJ-KQ51002 | Human | 10715 | Details Get a Quote |
| CERS1 Knockout HeLa Cell Line | EDJ-KQ55468 | Human | 10715 | Details Get a Quote |
| CERS1 Knockout A-549 Cell Line | EDJ-KQ63953 | Human | 10715 | Details Get a Quote |
| CERS1 Knockout HCT 116 Cell Line | EDJ-KQ72409 | Human | 10715 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
