CERS5: Ceramide Synthase 5
Key enzyme in sphingolipid metabolism and cellular signaling
Gene Information Card
| Symbol | CERS5 |
|---|---|
| Full Name | Ceramide Synthase 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 91012 ncbi.nlm.nih.gov/gene/91012 |
| Ensembl ID | ENSG00000139684 |
| UniProt ID | Q8N5S9 |
| OMIM ID | 615335 |
| HGNC ID | 23749 |
| Aliases | LASS5, Trh4 |
Description
CERS5 (ceramide synthase 5) encodes a member of the ceramide synthase family that catalyzes the synthesis of ceramides with specific fatty acyl chain lengths, primarily C16:0 and C18:0 ceramides. The enzyme is involved in sphingolipid metabolism, regulating cellular processes such as apoptosis, cell cycle, and stress responses. CERS5 is expressed in multiple tissues and is implicated in cancer, insulin resistance, and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered ceramide synthesis affects cell survival and proliferation; CERS5 overexpression linked to chemoresistance | PMID: 25605274 |
| Type 2 diabetes | CERS5-mediated ceramide accumulation contributes to insulin resistance in adipose and liver | PMID: 21788511 |
| Alzheimer's disease | Dysregulated ceramide metabolism via CERS5 may promote neuroinflammation and amyloid-beta toxicity | PMID: 24022479 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Brain | 6.1 | Low |
| Kidney | 9.7 | Medium |
| Lung | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| HepG2 | 11.8 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 9.3 | Neuroblastoma cell line |
| MCF7 | 14.0 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional impact |
| c.452G>A (p.Arg151His) | Missense | <0.01% | Potential loss of enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may reduce ceramide synthase activity, affecting sphingolipid homeostasis.
Gain of Function (GOF)
Not reported for CERS5.
Dominant Negative (DN)
Not reported for CERS5.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG: hsa00600 - Sphingolipid metabolism
• Reactome: R-HSA-1660661 - Synthesis of ceramides
Protein Summary
CERS5 is a 392-amino acid protein localized to the endoplasmic reticulum. It contains a conserved TLC (TRAM-LAG1-CLN8) domain essential for ceramide synthase activity. The enzyme uses acyl-CoA and sphingoid bases to produce ceramides, primarily C16- and C18-ceramides, which are key bioactive lipids in cell signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CERS5 Knockout HEK293 Cell Line | EDJ-KQ1737 | Human | 91012 | Details Get a Quote |
| CERS5 Knockout A-549 Cell Line | EDJ-KQ21583 | Human | 91012 | Details Get a Quote |
| CERS5 Knockout HCT 116 Cell Line | EDJ-KQ21584 | Human | 91012 | Details Get a Quote |
| CERS5 Knockout HeLa Cell Line | EDJ-KQ21585 | Human | 91012 | Details Get a Quote |
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