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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CEPT1
choline/ethanolamine phosphotransferase 1
Chromosome 1 · 1p13.3
NCBI Gene: 10390Ensembl: ENSG00000134255.16HGNC: HGNC:24289UniProt: A0A8V8TQ23
55PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ethanolaminephosphotransferase activityendoplasmic reticulum membranephosphatidylethanolamine biosynthetic processphosphatidylcholine biosynthetic processneurodegenerative diseaseHashimoto's thyroiditisinflammatory bowel diseaseschizophrenia
✦AI Summary

CEPT1 (choline/ethanolamine phosphotransferase 1) is a dual-specificity enzyme that catalyzes the final step in phosphatidylcholine (PC) and phosphatidylethanolamine (PE) biosynthesis via the Kennedy pathway, transferring phosphate groups from CDP-choline or CDP-ethanolamine to diacylglycerol 12. The enzyme exhibits higher cholinephosphotransferase activity than ethanolaminephosphotransferase activity and localizes primarily to the endoplasmic reticulum 3. Structurally, CEPT1 forms dimers with 10 transmembrane segments per protomer, featuring a conserved catalytic domain with a hydrophobic chamber that coordinates acyl tails during catalysis 2. Beyond phospholipid synthesis, CEPT1 plays protective roles by suppressing ferroptosis through interactions with phospholipases and breakdown of pro-ferroptotic polyunsaturated fatty acid-containing phospholipids 4. In skeletal muscle, CEPT1 regulates insulin sensitivity and contractile function by modulating sarcoplasmic reticulum phospholipid composition and calcium handling 5. Additionally, endothelial CEPT1 promotes angiogenesis through PPARα and VEGF-A signaling pathways, particularly important in diabetic vascular recovery 6. Clinically, CEPT1 expression correlates inversely with insulin sensitivity in obese humans and is elevated in peripheral artery disease 56.

Sources cited
1
CEPT1 catalyzes PC and PE synthesis with higher cholinephosphotransferase than ethanolaminephosphotransferase activity
PMID: 12216837
2
Structural characterization showing CEPT1 dimers with 10 transmembrane segments and catalytic mechanism
PMID: 37137909
3
CEPT1 localizes to the endoplasmic reticulum and contributes to ethanolamine phospholipid biosynthesis
PMID: 32576654
4
CEPT1 suppresses ferroptosis by interacting with phospholipases and breaking down pro-ferroptotic phospholipids
PMID: 38430542
5
CEPT1 regulates skeletal muscle insulin sensitivity and sarcoplasmic reticulum calcium handling
PMID: 26512026
6
Endothelial CEPT1 promotes angiogenesis through PPARα and VEGF-A signaling in diabetic conditions
PMID: 41263082
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.35Weak
Hashimoto's thyroiditisOpen Targets
0.23Weak
inflammatory bowel diseaseOpen Targets
0.10Suggestive
schizophreniaOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.04Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
peripheral arterial diseaseOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
mesotheliomaOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
aortic atherosclerosisOpen Targets
0.01Suggestive
oral squamous cell carcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
Glucose intoleranceOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
glioblastomaOpen Targets
0.01Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PEMTProtein interaction97%PLA2G12AProtein interaction96%PTDSS2Protein interaction96%LPIN1Protein interaction94%LPIN3Protein interaction94%MBOAT2Protein interaction94%
Tissue Expression6 tissues
Liver
100%
Lung
86%
Brain
83%
Ovary
80%
Bone Marrow
63%
Heart
37%
Gene Interaction Network
Click a node to explore
CEPT1PEMTPLA2G12APTDSS2LPIN1LPIN3MBOAT2
PROTEIN STRUCTURE
Preparing viewer…
PDB8GYX · 3.70 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.36Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.19 [0.11–0.36]
RankingsWhere CEPT1 stands among ~20K protein-coding genes
  • #8,182of 20,598
    Most Researched55
  • #1,607of 17,882
    Most Constrained (LOEUF)0.36 · top 10%
Genes detectedCEPT1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Proteomic analysis of ferroptosis pathways reveals a role of CEPT1 in suppressing ferroptosis.
PMID: 38430542
Protein Cell · 2024
1.00
2
Tripeptidyl peptidase II coordinates the homeostasis of calcium and lipids in the central nervous system and its depletion causes presenile dementia in female mice through calcium/lipid dyshomeostasis-induced autophagic degradation of CYP19A1.
PMID: 38389851
Theranostics · 2024
0.90
3
Locations and contributions of the phosphotransferases EPT1 and CEPT1 to the biosynthesis of ethanolamine phospholipids.
PMID: 32576654
J Lipid Res · 2020
0.80
4
Endothelial CEPT1 Promotes Angiogenesis Through PPARα and VEGF-A Signaling.
PMID: 41263082
Arterioscler Thromb Vasc Biol · 2026
0.70
5
Choline-related-inherited metabolic diseases-A mini review.
PMID: 30681159
J Inherit Metab Dis · 2019
0.60