CERK (Ceramide Kinase) Gene
A comprehensive biomedical overview of the CERK gene, its protein product, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | CERK |
|---|---|
| Full Name | Ceramide Kinase |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.31 |
| NCBI Gene ID | 64781 ncbi.nlm.nih.gov/gene/64781 |
| Ensembl ID | ENSG00000100422 |
| UniProt ID | Q8TCT0 |
| OMIM ID | 608092 |
| HGNC ID | 19256 |
| Aliases | CERK1, hCERK, MGC138687 |
Description
The CERK gene encodes ceramide kinase, an enzyme that phosphorylates ceramide to produce ceramide-1-phosphate (C1P). This lipid mediator is involved in various cellular processes including inflammation, cell survival, and proliferation. CERK is a key regulator of sphingolipid metabolism and has been implicated in several diseases, including cancer and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered CERK expression affects C1P levels, promoting cell survival and proliferation | COSMIC, PubMed |
| Inflammatory diseases | C1P is a pro-inflammatory mediator; CERK activity modulates inflammatory responses | PubMed |
| Neurodegenerative disorders | Sphingolipid imbalance may contribute to neuronal dysfunction | PubMed |
| Metabolic disorders | CERK influences lipid metabolism and insulin signaling | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.4 | Low |
| Lung | 8.1 | Low |
| Liver | 5.3 | Low |
| Kidney | 7.2 | Low |
| Testis | 20.5 | Medium |
| Spleen | 6.8 | Low |
| Blood | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Moderate expression |
| A549 | 10.2 | Low expression |
| MCF7 | 8.7 | Low expression |
| K562 | 5.4 | Low expression |
| HepG2 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% | Potential effect on kinase activity |
| c.567C>T (p.Pro189Leu) | Missense | 0.005% | Unknown |
| c.890del (p.Leu297fs) | Frameshift | 0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated protein and loss of kinase activity.
Gain of Function (GOF)
Missense mutations may increase kinase activity, but evidence is limited.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ceramide kinase activity | • ATP binding |
| • sphingolipid metabolic process | • ceramide metabolic process |
| • phospholipid biosynthetic process | • signal transduction |
Pathways
• Sphingolipid metabolism
• Sphingosine-1-phosphate signaling
• Ceramide signaling
Protein Summary
Ceramide kinase (CERK) is a 537-amino acid protein that catalyzes the phosphorylation of ceramide to ceramide-1-phosphate (C1P). It is a member of the diacylglycerol kinase family and contains a catalytic domain and a pleckstrin homology (PH) domain. CERK is localized to the Golgi apparatus and plasma membrane, and its activity is regulated by calcium and phosphatidylserine. C1P produced by CERK acts as a signaling molecule that promotes cell proliferation, survival, and inflammation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CERK Knockout HEK293 Cell Line | EDJ-KQ12874 | Human | 64781 | Details Get a Quote |
| CERKL Knockout HEK293 Cell Line | EDJ-KQ12875 | Human | 375298 | Details Get a Quote |
| CERK Knockout A-549 Cell Line | EDJ-KQ42051 | Human | 64781 | Details Get a Quote |
| CERK Knockout HCT 116 Cell Line | EDJ-KQ42052 | Human | 64781 | Details Get a Quote |
| CERK Knockout HeLa Cell Line | EDJ-KQ42053 | Human | 64781 | Details Get a Quote |
| CERKL Knockout HeLa Cell Line | EDJ-KQ59917 | Human | 375298 | Details Get a Quote |
| CERKL Knockout A-549 Cell Line | EDJ-KQ68379 | Human | 375298 | Details Get a Quote |
| CERKL Knockout HCT 116 Cell Line | EDJ-KQ76758 | Human | 375298 | Details Get a Quote |
