EME1: Essential Meiotic Structure-Specific Endonuclease 1
A key component of the MUS81-EME1 complex involved in DNA repair and replication fork stability
Gene Information Card
| Symbol | EME1 |
|---|---|
| Full Name | Essential Meiotic Structure-Specific Endonuclease 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 17q21.33 |
| NCBI Gene ID | 146956 ncbi.nlm.nih.gov/gene/146956 |
| Ensembl ID | ENSG00000167900 |
| UniProt ID | Q96AY2 |
| OMIM ID | 609853 |
| HGNC ID | 24965 |
| Aliases | MMS4L, SLX2A, C17orf32 |
Description
EME1 encodes a protein that forms a heterodimeric complex with MUS81 to create a structure-specific endonuclease. This complex cleaves branched DNA structures such as 3' flap substrates, replication forks, and Holliday junctions, playing a critical role in DNA repair, homologous recombination, and maintenance of genomic stability. EME1 is essential for meiotic recombination and cellular responses to DNA damage.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Altered EME1 expression may disrupt DNA repair, increasing genomic instability and tumorigenesis. | PMID: 23555315 |
| Ovarian Cancer | MUS81-EME1 complex dysfunction contributes to defective homologous recombination repair. | PMID: 23555315 |
| Fanconi Anemia | Potential involvement in interstrand crosslink repair via the MUS81-EME1 pathway. | PMID: 19160487 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 8.3 | Medium |
| Lymph Node | 6.1 | Low |
| Spleen | 5.4 | Low |
| Ovary | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| HEK 293 | 7.8 | Embryonic kidney cells |
| MCF7 | 6.5 | Breast cancer cell line |
| HCT116 | 5.9 | Colorectal carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Potential loss of function |
| c.287C>T | Nonsense | Rare | Premature truncation |
| c.512G>A | Missense | Rare | Unknown |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in EME1 impair MUS81-EME1 endonuclease activity, leading to defective DNA repair and increased sensitivity to DNA-damaging agents.
Gain of Function (GOF)
No gain-of-function mutations have been reported for EME1.
Dominant Negative (DN)
Dominant-negative effects are not well characterized; however, certain missense variants may disrupt complex formation with MUS81.
View complete mutation data：
Gene Ontology (GO)
| • endonuclease activity (GO:0004519) | • DNA repair (GO:0006281) |
| • DNA recombination (GO:0006310) | • meiotic recombination (GO:0007131) |
| • replication fork protection (GO:0048478) |
Pathways
• Homologous recombination (Reactome: R-HSA-5693568)
• Resolution of D-loop structures (Reactome: R-HSA-5693571)
• Fanconi anemia pathway (KEGG: hsa03460)
Protein Summary
EME1 is a 571-amino acid protein that forms a heterodimer with MUS81. The complex exhibits 3' flap endonuclease activity and resolves replication forks and Holliday junctions. It is localized to the nucleus and is essential for maintaining genomic stability during DNA replication and repair.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EME1 Knockout HEK293 Cell Line | EDJ-KQ9815 | Human | 146956 | Details Get a Quote |
| EME1 Knockout A-549 Cell Line | EDJ-KQ37956 | Human | 146956 | Details Get a Quote |
| EME1 Knockout HCT 116 Cell Line | EDJ-KQ37957 | Human | 146956 | Details Get a Quote |
| EME1 Knockout HeLa Cell Line | EDJ-KQ37958 | Human | 146956 | Details Get a Quote |
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