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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ETNPPL
ethanolamine-phosphate phospho-lyase
Chromosome 4 · 4q25
NCBI Gene: 64850Ensembl: ENSG00000164089.10HGNC: HGNC:14404UniProt: B7Z224
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingethanolamine-phosphate phospho-lyase activitymitochondrial matrixpyridoxal phosphate bindingIncreased total eosinophil countcutaneous melanomaAbnormal sputumclear cell renal carcinoma
✦AI Summary

ETNPPL (ethanolamine-phosphate phospho-lyase) is a pyridoxal-phosphate-dependent metabolic enzyme localized to the mitochondrial matrix that catalyzes the breakdown of phosphoethanolamine into ammonia, inorganic phosphate, and acetaldehyde 1. The enzyme plays critical roles in lipid homeostasis across multiple tissues. In the brain, ETNPPL is astrocyte-specific and fasting-induced, regulating phospholipid composition during development and in response to glucocorticoids; loss of ETNPPL alters the phospholipid profile, increasing total phosphatidylethanolamine and polyunsaturated fatty acids 2. In hepatocytes, ETNPPL reduces cellular phosphoethanolamine synthesis, decreasing PE availability and increasing the PC:PE ratio associated with metabolic dysfunction-associated steatotic liver disease 3. ETNPPL mediates hyperinsulinemia-induced insulin resistance through SIK1/ROS-dependent inactivation of PI3K/AKT signaling 1, and palmitic acid-induced insulin resistance through ARG2/ROS-mediated autophagy impairment 4. Clinically, ETNPPL is downregulated in hepatocellular carcinoma with diagnostic value (AUC=0.9089) and prognostic significance; overexpression inhibits HCC cell migration and invasion 5. In gliomas, ETNPPL downregulation promotes malignant progression, with ETNPPL expression inversely correlated to glioma grade 6. ETNPPL expression is reduced in Parkinson's disease dopaminergic neurons, correlating with disease pathology 7, and identified as a potential biomarker for sarcopenia diagnosis 8.

Sources cited
1
ETNPPL (ethanolamine-phosphate phospho-lyase) is a pyridoxal-phosphate-dependent metabolic enzyme localized to the mitochondrial matrix that catalyzes the breakdown of phosphoethanolamine into ammonia, inorganic phosphate, and acetaldehyde .
PMID: 36924049
2
In the brain, ETNPPL is astrocyte-specific and fasting-induced, regulating phospholipid composition during development and in response to glucocorticoids; loss of ETNPPL alters the phospholipid profile, increasing total phosphatidylethanolamine and polyunsaturated fatty acids .
PMID: 34048714
3
In hepatocytes, ETNPPL reduces cellular phosphoethanolamine synthesis, decreasing PE availability and increasing the PC:PE ratio associated with metabolic dysfunction-associated steatotic liver disease .
PMID: 40154596
4
ETNPPL mediates hyperinsulinemia-induced insulin resistance through SIK1/ROS-dependent inactivation of PI3K/AKT signaling , and palmitic acid-induced insulin resistance through ARG2/ROS-mediated autophagy impairment .
PMID: 36841363
5
Clinically, ETNPPL is downregulated in hepatocellular carcinoma with diagnostic value (AUC=0.9089) and prognostic significance; overexpression inhibits HCC cell migration and invasion .
PMID: 37637156
6
In gliomas, ETNPPL downregulation promotes malignant progression, with ETNPPL expression inversely correlated to glioma grade .
PMID: 32218467
7
ETNPPL expression is reduced in Parkinson's disease dopaminergic neurons, correlating with disease pathology , and identified as a potential biomarker for sarcopenia diagnosis .
PMID: 39684817
8
ETNPPL expression is reduced in Parkinson's disease dopaminergic neurons, correlating with disease pathology , and identified as a potential biomarker for sarcopenia diagnosis .
PMID: 36050999
Disease Associationsⓘ20
Increased total eosinophil countOpen Targets
0.32Weak
cutaneous melanomaOpen Targets
0.31Weak
Abnormal sputumOpen Targets
0.31Weak
clear cell renal carcinomaOpen Targets
0.20Weak
renal carcinomaOpen Targets
0.18Weak
ocular hypotensionOpen Targets
0.17Weak
pericarditisOpen Targets
0.17Weak
Hypomaturation amelogenesis imperfectaOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
Hypoplastic amelogenesis imperfectaOpen Targets
0.07Suggestive
essential tremorOpen Targets
0.07Suggestive
Young adult-onset ParkinsonismOpen Targets
0.07Suggestive
amelogenesis imperfectaOpen Targets
0.06Suggestive
dystonia 27Open Targets
0.06Suggestive
familial hypobetalipoproteinemia 2Open Targets
0.06Suggestive
Hereditary late-onset Parkinson diseaseOpen Targets
0.06Suggestive
Platelet-activating factor acetylhydrolase deficiencyOpen Targets
0.06Suggestive
tooth agenesisOpen Targets
0.06Suggestive
X-linked dystonia-parkinsonismOpen Targets
0.06Suggestive
Cranio-cervical dystonia with laryngeal and upper-limb involvementOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ETNK2Protein interaction94%ETNK1Protein interaction94%HYKKProtein interaction93%CHKAProtein interaction91%CHKBProtein interaction91%PCYT2Protein interaction91%
Tissue Expression6 tissues
Liver
100%
Brain
53%
Heart
7%
Ovary
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ETNPPLETNK2ETNK1HYKKCHKACHKBPCYT2
PROTEIN STRUCTURE
Preparing viewer…
PDB6TOR · 2.05 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.65LoF Tolerant
pLIⓘ
0.51Intermediate
Observed/Expected LoF0.38 [0.24–0.65]
RankingsWhere ETNPPL stands among ~20K protein-coding genes
  • #14,994of 20,598
    Most Researched17
  • #4,736of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedETNPPL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The role of ethanolamine phosphate phospholyase in regulation of astrocyte lipid homeostasis.
PMID: 34048714
J Biol Chem · 2021
1.00
2
Ethanolamine-phosphate phospho-lyase (ETNPPL) contributes to the diagnosis, prognosis, and therapy of hepatocellular carcinoma.
PMID: 37637156
PeerJ · 2023
0.90
3
ETNPPL modulates hyperinsulinemia-induced insulin resistance through the SIK1/ROS-mediated inactivation of the PI3K/AKT signaling pathway in hepatocytes.
PMID: 36924049
J Cell Physiol · 2023
0.80
4
ETNPPL impairs autophagy through regulation of the ARG2-ROS signaling axis, contributing to palmitic acid-induced hepatic insulin resistance.
PMID: 36841363
Free Radic Biol Med · 2023
0.70
5
Alterations in phosphatidylethanolamine metabolism impacts hepatocellular lipid storage, energy homeostasis, and proliferation.
PMID: 40154596
Biochim Biophys Acta Mol Cell Biol Lipids · 2025
0.60