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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ETNK1
ethanolamine kinase 1
Chromosome 12 · 12p12.1
NCBI Gene: 55500Ensembl: ENSG00000139163.16HGNC: HGNC:24649UniProt: Q86U68
29PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmprotein bindingphosphatidylethanolamine biosynthetic processethanolamine kinase activityneurodegenerative diseasesmoking initiationchronic myelogenous leukemiaEndometrial Endometrioid Adenocarcinoma
✦AI Summary

ETNK1 (ethanolamine kinase 1) catalyzes the phosphorylation of ethanolamine, a rate-controlling step in phosphatidylethanolamine (PE) biosynthesis via the CDP-ethanolamine pathway 1. This lipid metabolic enzyme functions in the cytoplasm and at cellular membranes to regulate phospholipid composition. Mechanistically, ETNK1 controls PE synthesis, which localizes to the outer plasma membrane and coordinates post-transcriptional regulation of membrane proteins. In T follicular helper cells, ETNK1-dependent PE synthesis prevents internalization and degradation of CXCR5, promoting humoral immunity 1. ETNK1 also contributes to ferroptosis resistance by regulating cellular phospholipid profiles; hypoxia-induced suppression of ETNK1 expression reduces ferroptosis sensitivity in cancer cells 2. Clinically, ETNK1 mutations are implicated in myeloid neoplasms. While historically associated with atypical chr12 myeloid leukemia (aCML) diagnosis 34, ETNK1 mutations occur across diverse myeloid malignancies including myelodysplastic syndrome (46%), MDS/MPN overlap (21%), acute myeloid leukemia (18%), and myeloproliferative neoplasm (15%) 5. ETNK1 mutations typically represent early, dominant clonal events accompanied by concurrent mutations (ASXL1, TET2, EZH2), and may promote genomic instability 5. ETNK1 is recommended for inclusion in myeloid gene panels 6, and represents a potential therapeutic target for myeloid neoplasms 7.

Sources cited
1
ETNK1 is an enzyme in the CDP-ethanolamine pathway for de novo PE synthesis that post-transcriptionally regulates CXCR5 surface expression and TFH cell differentiation
PMID: 34234346
2
ETNK1 is a KDM6A transcriptional target whose reduced expression under hypoxia contributes to ferroptosis resistance by rewiring phospholipid profiles
PMID: 40712585
3
ETNK1 mutations support diagnosis of aCML and are found in MDS/MPN overlap syndromes; ETNK1 is identified as an actionable mutation in myeloid neoplasms
PMID: 38644693
4
ETNK1 mutations are commonly encountered in aCML diagnosis and are used for disease classification
PMID: 36601682
5
ETNK1 mutations occur across diverse myeloid neoplasms (MDS, MDS/MPN, AML, MPN), represent early dominant clonal events with concurrent mutations, and are not disease-specific
PMID: 36583229
6
ETNK1 is recommended for inclusion in myeloid gene panels for evaluation of chronic myeloid neoplasms
PMID: 34784413
7
ETNK1 mutations are low-frequency events in aCML and represent potential therapeutic targets
PMID: 38066919
8
ETNK1 mutations are enriched in BCR-ABL1-negative aCML among MDS/MPN overlap syndromes
PMID: 33275756
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
smoking initiationOpen Targets
0.39Weak
chronic myelogenous leukemiaOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
esophageal adenocarcinomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage DiseaseOpen Targets
0.37Weak
prostate carcinomaOpen Targets
0.32Weak
refractive errorOpen Targets
0.31Weak
chronic myelomonocytic leukemiaOpen Targets
0.29Weak
myeloid neoplasmOpen Targets
0.28Weak
myelodysplastic syndromeOpen Targets
0.28Weak
hepatocellular carcinomaOpen Targets
0.28Weak
acute myeloid leukemiaOpen Targets
0.28Weak
lung adenocarcinomaOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ETNK2Shared pathway100%ETNPPLProtein interaction94%GPCPD1Protein interaction92%SOX5Protein interaction86%PCYT2Protein interaction69%SELENOIProtein interaction58%
Tissue Expression6 tissues
Liver
100%
Brain
95%
Ovary
72%
Lung
67%
Bone Marrow
53%
Heart
44%
Gene Interaction Network
Click a node to explore
ETNK1ETNK2ETNPPLGPCPD1SOX5PCYT2SELENOI
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q86U68
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.37Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.18 [0.09–0.37]
RankingsWhere ETNK1 stands among ~20K protein-coding genes
  • #12,139of 20,598
    Most Researched29
  • #1,709of 17,882
    Most Constrained (LOEUF)0.37 · top 10%
Genes detectedETNK1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
HIF-independent oxygen sensing via KDM6A regulates ferroptosis.
PMID: 40712585
Mol Cell · 2025
1.00
2
Chronic neutrophilic leukemia and atypical chronic myeloid leukemia: 2024 update on diagnosis, genetics, risk stratification, and management.
PMID: 38644693
Am J Hematol · 2024
0.90
3
Genomics of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes.
PMID: 33275756
Hematology Am Soc Hematol Educ Program · 2020
0.80
4
Metabolic control of T
PMID: 34234346
Nature · 2021
0.70
5
Atypical chronic myeloid leukemia and myelodysplastic/myeloproliferative neoplasm, not otherwise specified: 2023 update on diagnosis, risk stratification, and management.
PMID: 36601682
Am J Hematol · 2023
0.60