CERS4: Ceramide Synthase 4
Key enzyme in sphingolipid metabolism and its role in cancer and metabolic disorders
Gene Information Card
| Symbol | CERS4 |
|---|---|
| Full Name | Ceramide synthase 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 1303 ncbi.nlm.nih.gov/gene/1303 |
| Ensembl ID | ENSG00000105357 |
| UniProt ID | Q8N5S1 |
| OMIM ID | 606207 |
| HGNC ID | 23749 |
| Aliases | LASS4, TRH4 |
Description
CERS4 encodes ceramide synthase 4, an enzyme that catalyzes the synthesis of ceramides with specific acyl chain lengths (C18-C20). It plays a critical role in sphingolipid metabolism, regulating cell growth, differentiation, and apoptosis. Altered expression and mutations are linked to various cancers and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Reduced CERS4 expression leads to altered ceramide profiles promoting tumor growth | PMID: 25620004 |
| Colorectal cancer | CERS4 downregulation associated with poor prognosis and chemoresistance | PMID: 27559042 |
| Type 2 diabetes | CERS4 variants influence ceramide levels and insulin resistance | PMID: 27151237 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Low |
| Heart | 4.7 | Low |
| Lung | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| MCF7 | 5.4 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.01% | Reduced enzyme activity |
| c.1246G>A (p.Gly416Arg) | Missense | 0.005% | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
p.Arg339Trp reduces ceramide synthesis activity
Gain of Function (GOF)
None reported
Dominant Negative (DN)
Not documented
View complete mutation data：
Gene Ontology (GO)
| • transferase activity (GO:0016740) | • ceramide synthase activity (GO:0017025) |
| • ceramide biosynthetic process (GO:0006672) | • endoplasmic reticulum (GO:0005783) |
Pathways
• Sphingolipid metabolism (KEGG: hsa00600)
• Ceramide de novo synthesis (Reactome: R-HSA-1660661)
Protein Summary
Ceramide synthase 4 is a 394-amino acid transmembrane protein localized to the endoplasmic reticulum. It catalyzes the acylation of sphingoid bases to form ceramides, preferentially using C18-C20 acyl-CoAs. The protein contains a conserved Lag1 motif essential for catalytic activity and is involved in cellular stress responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CERS4 Knockout HEK293 Cell Line | EDJ-KQ1733 | Human | 79603 | Details Get a Quote |
| CERS4 Knockout HCT 116 Cell Line | EDJ-KQ20231 | Human | 79603 | Details Get a Quote |
| CERS4 Knockout A-549 Cell Line | EDJ-KQ21579 | Human | 79603 | Details Get a Quote |
| CERS4 Knockout HeLa Cell Line | EDJ-KQ57190 | Human | 79603 | Details Get a Quote |
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