HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EEPD1
endonuclease/exonuclease/phosphatase family domain containing 1
Chromosome 7 · 7p14.2
NCBI Gene: 80820Ensembl: ENSG00000122547.13HGNC: HGNC:22223UniProt: Q7L9B9
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of cholesterol effluxplasma membraneDNA bindinginfectious meningitisovarian neoplasmbreast benign neoplasmfrozen shoulder
✦AI Summary

EEPD1 (endonuclease/exonuclease/phosphatase family domain containing 1) is a multifunctional protein with primary roles in DNA repair and metabolic regulation. As a DNase1 superfamily member, EEPD1 functions in oxidative damage repair and stressed replication fork restart 12. The protein localizes to the plasma membrane through N-terminal myristoylation and palmitoylation, particularly in response to high cholesterol levels 32. Mechanistically, EEPD1 regulates cholesterol homeostasis by functioning as an LXR target gene that enhances ABCA1-dependent cholesterol efflux from macrophages 3. Additionally, EEPD1 promotes actin polymerization and cell migration through SRC-RAC1 signaling pathways 2, and activates PKA-mediated lipolysis and thermogenesis in adipose tissue following myristoylation 4. Diseases involving EEPD1 dysregulation include obesity (reduced EEPD1 expression accelerates development), atherosclerosis (elevated EEPD1 promotes endothelial apoptosis via ERK phosphorylation), and NASH exacerbated by obstructive sleep apnea (CIH-mediated autophagic degradation of EEPD1 increases hepatic DNA damage) 456. MicroRNA-320b suppression of EEPD1 impairs macrophage cholesterol efflux and atherosclerosis progression 7. Clinically, pharmacological restoration of EEPD1 with Retigabine dihydrochloride effectively mitigates both obesity and NASH progression, suggesting EEPD1 as a promising therapeutic target for metabolic and cardiovascular diseases 46.

Sources cited
1
The protein localizes to the plasma membrane through N-terminal myristoylation and palmitoylation, particularly in response to high cholesterol levels , .
PMID: 28082258
2
As a DNase1 superfamily member, EEPD1 functions in oxidative damage repair and stressed replication fork restart , .
PMID: 40589157
3
Additionally, EEPD1 promotes actin polymerization and cell migration through SRC-RAC1 signaling pathways , and activates PKA-mediated lipolysis and thermogenesis in adipose tissue following myristoylation .
PMID: 39809799
4
MicroRNA-320b suppression of EEPD1 impairs macrophage cholesterol efflux and atherosclerosis progression .
PMID: 33536383
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
infectious meningitisOpen Targets
0.32Weak
ovarian neoplasmOpen Targets
0.29Weak
breast benign neoplasmOpen Targets
0.28Weak
frozen shoulderOpen Targets
0.25Weak
bilirubin metabolism diseaseOpen Targets
0.25Weak
ovarian dysfunctionOpen Targets
0.19Weak
neuroendocrine neoplasmOpen Targets
0.19Weak
cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
atherosclerosisOpen Targets
0.07Suggestive
obesityOpen Targets
0.07Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.05Suggestive
non-alcoholic steatohepatitisOpen Targets
0.05Suggestive
pseudohypoparathyroidism type 2Open Targets
0.04Suggestive
breast cancerOpen Targets
0.04Suggestive
familial isolated hypoparathyroidism due to agenesis of parathyroid glandOpen Targets
0.03Suggestive
obstructive sleep apneaOpen Targets
0.03Suggestive
familial isolated hyperparathyroidismOpen Targets
0.03Suggestive
hyperparathyroidismOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IWS1Protein interaction78%ZNF668Shared pathway50%ERCC6LShared pathway50%BACH1Shared pathway50%ALKBH2Shared pathway33%PWWP3AShared pathway33%
Tissue Expression6 tissues
Liver
100%
Lung
63%
Ovary
60%
Heart
48%
Bone Marrow
45%
Brain
41%
Gene Interaction Network
Click a node to explore
EEPD1IWS1ZNF668ERCC6LBACH1ALKBH2PWWP3A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q7L9B9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.56Moderately Constrained
pLIⓘ
0.81Intermediate
Observed/Expected LoF0.36 [0.24–0.56]
RankingsWhere EEPD1 stands among ~20K protein-coding genes
  • #11,906of 20,598
    Most Researched30
  • #3,651of 17,882
    Most Constrained (LOEUF)0.56 · top quartile
Genes detectedEEPD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Myristoylated Eepd1 Enhances Lipolysis and Thermogenesis through PKA Activation to Combat Obesity.
PMID: 39809799
Nat Commun · 2025
1.00
2
Obstructive Sleep Apnea Syndrome Exacerbates NASH Progression via Selective Autophagy-Mediated Eepd1 Degradation.
PMID: 38924647
Adv Sci (Weinh) · 2024
0.90
3
EEPD1 regulates inflammation and endothelial apoptosis in atherosclerosis through KLF4-EEPD1-ERK axis.
PMID: 40268512
Clin Transl Med · 2025
0.80
4
Cellular Responses to Widespread DNA Replication Stress.
PMID: 38069223
Int J Mol Sci · 2023
0.70
5
Transcriptional analysis of human peripheral blood mononuclear cells stimulated by
PMID: 37818041
Front Cell Infect Microbiol · 2023
0.60