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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EME1
essential meiotic structure-specific endonuclease 1
Chromosome 17 · 17q21.33
NCBI Gene: 146956Ensembl: ENSG00000154920.16HGNC: HGNC:24965UniProt: Q96AY2
75PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
telomere maintenancereplication fork processingresponse to intra-S DNA damage checkpoint signalingcrossover junction DNA endonuclease activityneurodegenerative diseaseprimary familial polycythemia due to EPO receptor mutationgastric cancerhemolytic anemia due to diphosphoglycerate mutase deficiency
✦AI Summary

EME1 (essential meiotic structure-specific endonuclease 1) serves as the non-catalytic subunit of the heterodimeric MUS81-EME1 endonuclease complex, which plays a critical role in maintaining genome stability through processing of aberrant DNA structures 1. The complex exhibits high specificity for replication fork structures and 3'-flaps, cleaving these substrates to resolve stalled replication forks and prevent genomic instability 1. While EME1 lacks catalytic activity, it is essential for DNA recognition, binding, and substrate cleavage within the complex 1. The MUS81-EME1 complex functions as part of the SMX nuclease network alongside SLX1-SLX4 and XPF-ERCC1, coordinated by the SLX4 scaffold protein to resolve various DNA intermediates including Holliday junctions and replication fork structures 23. EME1 has significant clinical relevance, as it shows oncogenic properties with overexpression associated with poor prognosis across multiple cancer types 4. Additionally, EME1 deficiency sensitizes cells to PARP inhibitors, suggesting potential therapeutic applications in cancer treatment 5. The protein also contributes to processing expanded DNA repeats, as MUS81-EME1 cleavage of stalled replication forks at expanded TA repeats can lead to chromosome 17 in microsatellite-unstable cancers 6.

Sources cited
1
EME1 is the non-catalytic subunit of MUS81-EME1 endonuclease complex with high specificity for replication fork structures and 3'-flaps
PMID: 12721304
2
MUS81-EME1 functions as part of the SMX nuclease network coordinated by SLX4 scaffold protein
PMID: 30284473
3
SMX complex including MUS81-EME1 can cleave joint DNA molecules and coordinate with other repair mechanisms
PMID: 38266639
4
EME1 shows oncogenic properties with overexpression associated with poor prognosis in multiple cancer types
PMID: 41082058
5
EME1 deficiency sensitizes cells to PARP inhibitors in cancer treatment
PMID: 39718835
6
MUS81 nuclease cleaves expanded TA repeats leading to chromosome shattering in microsatellite-unstable cancers
PMID: 32999459
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.07Suggestive
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
0.07Suggestive
Blackfan-Diamond anemiaOpen Targets
0.07Suggestive
erythrocytosis, familial, 3Open Targets
0.06Suggestive
erythrocytosis, familial, 6Open Targets
0.06Suggestive
lung adenocarcinomaOpen Targets
0.06Suggestive
inosine triphosphatase deficiencyOpen Targets
0.06Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
Pyruvate kinase hyperactivityOpen Targets
0.06Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.06Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.06Suggestive
erythrocytosis, familial, 4Open Targets
0.05Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
familial isolated congenital aspleniaOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.05Suggestive
dominant beta-thalassemiaOpen Targets
0.05Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DNA2Protein interaction100%TERF2IPProtein interaction100%SLX1AProtein interaction99%ATMProtein interaction98%FANCD2Protein interaction95%FEN1Protein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
24%
Ovary
12%
Lung
9%
Heart
6%
Liver
5%
Gene Interaction Network
Click a node to explore
EME1DNA2TERF2IPSLX1AATMFANCD2FEN1
PROTEIN STRUCTURE
Preparing viewer…
PDB9F9L · 2.02 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.25LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.00 [0.81–1.25]
RankingsWhere EME1 stands among ~20K protein-coding genes
  • #6,324of 20,598
    Most Researched75
  • #13,163of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedEME1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Repeat expansions confer WRN dependence in microsatellite-unstable cancers.
PMID: 32999459
Nature · 2020
1.00
2
Holliday junction resolvases.
PMID: 25183833
Cold Spring Harb Perspect Biol · 2014
0.90
3
BLM and BRCA1-BARD1 coordinate complementary mechanisms of joint DNA molecule resolution.
PMID: 38266639
Mol Cell · 2024
0.80
4
CRISPR/Cas9 screens identify LIG1 as a sensitizer of PARP inhibitors in castration-resistant prostate cancer.
PMID: 39718835
J Clin Invest · 2024
0.70
5
Oncogenic EME1 promotes tumor progression and immune modulation in human cancers with therapeutic targeting potential.
PMID: 41082058
Discov Oncol · 2025
0.60