CEPT1 Gene: Choline/Ethanolamine Phosphotransferase 1
Key enzyme in phospholipid biosynthesis, linking choline and ethanolamine pathways for membrane and signaling lipid production.
Gene Information Card
| Symbol | CEPT1 |
|---|---|
| Full Name | Choline/Ethanolamine Phosphotransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 10721 ncbi.nlm.nih.gov/gene/10721 |
| Ensembl ID | ENSG00000134242 |
| UniProt ID | Q9Y6K0 |
| OMIM ID | 603199 |
| HGNC ID | 2421 |
| Aliases | CEPT1, hCEPT1, CEPT, choline/ethanolamine phosphotransferase |
Description
CEPT1 encodes choline/ethanolamine phosphotransferase 1, an integral membrane protein of the endoplasmic reticulum and Golgi apparatus. It catalyzes the final step in both the CDP-choline (Kennedy) and CDP-ethanolamine pathways, transferring phosphocholine or phosphoethanolamine from CDP-choline or CDP-ethanolamine to diacylglycerol to produce phosphatidylcholine or phosphatidylethanolamine, respectively. This enzyme is essential for membrane biogenesis, lipid homeostasis, and cell signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered CEPT1 expression may disrupt phospholipid composition, affecting membrane fluidity and signaling pathways that promote tumor growth. | COSMIC; literature reports of overexpression in breast and ovarian cancers. |
| Metabolic disorders | Dysregulation of phosphatidylcholine and phosphatidylethanolamine synthesis can impact lipid metabolism and liver function. | OMIM #603199; limited direct evidence, inferred from pathway. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 10.1 | Medium |
| Heart | 6.7 | Low |
| Lung | 9.4 | Medium |
| Pancreas | 7.2 | Low |
| Spleen | 11.0 | Medium |
| Testis | 15.8 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | High expression in embryonic kidney cells |
| HeLa | 11.5 | Moderate expression in cervical cancer cells |
| MCF7 | 9.8 | Moderate expression in breast cancer cells |
| HepG2 | 8.1 | Low expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015G>A (p.Gly339Arg) | Missense | <0.01% | Unknown functional effect; rare variant in population databases |
| c.1243C>T (p.Arg415Trp) | Missense | <0.01% | Predicted damaging by in silico tools; no clinical association reported |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for CEPT1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • 1-alkyl-2-acetylglycerol choline phosphotransferase activity (GO:0003841) | • diacylglycerol cholinephosphotransferase activity (GO:0004140) |
| • diacylglycerol ethanolaminephosphotransferase activity (GO:0004141) | • endoplasmic reticulum (GO:0005783) |
| • Golgi apparatus (GO:0005794) | • phosphatidylcholine biosynthetic process (GO:0006656) |
| • phosphatidylethanolamine biosynthetic process (GO:0006646) | • membrane (GO:0016020) |
Pathways
• Glycerophospholipid biosynthesis (Reactome: R-HSA-1483206)
• CDP-choline pathway (Kennedy pathway)
• CDP-ethanolamine pathway
Protein Summary
CEPT1 is a 416-amino acid transmembrane protein localized to the endoplasmic reticulum and Golgi. It contains a conserved CDP-alcohol phosphotransferase domain and uses CDP-choline or CDP-ethanolamine as substrates to synthesize phosphatidylcholine and phosphatidylethanolamine, the two most abundant phospholipids in mammalian membranes. The enzyme is critical for maintaining membrane integrity, lipid droplet formation, and cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CEPT1 Knockout HEK293 Cell Line | EDJ-KQ7029 | Human | 10390 | Details Get a Quote |
| CEPT1 Knockout A-549 Cell Line | EDJ-KQ30409 | Human | 10390 | Details Get a Quote |
| CEPT1 Knockout HCT 116 Cell Line | EDJ-KQ31781 | Human | 10390 | Details Get a Quote |
| CEPT1 Knockout HeLa Cell Line | EDJ-KQ31782 | Human | 10390 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
