MUS81 Gene
MUS81 Structure-Specific Endonuclease Subunit
Gene Information Card
| Symbol | MUS81 |
|---|---|
| Full Name | MUS81 structure-specific endonuclease subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 80198 ncbi.nlm.nih.gov/gene/80198 |
| Ensembl ID | ENSG00000172732 |
| UniProt ID | Q96NY9 |
| OMIM ID | 606591 |
| HGNC ID | 29814 |
| Aliases | SLX3, MUS81-EME1 complex subunit |
Description
MUS81 encodes a structure-specific endonuclease that forms a heterodimer with EME1. The complex cleaves branched DNA structures such as 3' flaps, replication forks, and Holliday junctions, playing a critical role in DNA repair, homologous recombination, and maintenance of genomic stability. It is essential for resolving replication intermediates and processing DNA interstrand crosslinks.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Defective MUS81 leads to genomic instability and increased susceptibility to DNA damage, promoting tumorigenesis. | COSMIC; ClinVar |
| Fanconi anemia-like phenotype | Mutations impair interstrand crosslink repair, causing bone marrow failure and developmental abnormalities. | OMIM; PubMed |
| Colorectal cancer | Loss of MUS81 expression correlates with microsatellite instability and poor prognosis. | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.3 | Medium |
| Lymph node | 6.1 | Low |
| Brain | 2.4 | Low |
| Liver | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.2 | Cervical cancer cell line |
| HEK293 | 7.8 | Embryonic kidney |
| MCF7 | 6.5 | Breast cancer |
| HCT116 | 5.9 | Colorectal cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1370G>A (p.Arg457Gln) | Missense | <0.01% | Reduced endonuclease activity; associated with breast cancer risk |
| c.1003C>T (p.Arg335Ter) | Nonsense | <0.01% | Loss of function; truncation of C-terminal domain |
| c.1661_1662del (p.Glu554ValfsTer2) | Frameshift | <0.01% | Complete loss of protein function; found in colorectal tumors |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing DNA repair and causing genomic instability.
Gain of Function (GOF)
Not reported in MUS81.
Dominant Negative (DN)
Missense mutations (e.g., Arg457Gln) may produce a defective protein that interferes with wild-type MUS81-EME1 complex formation.
View complete mutation data：
Gene Ontology (GO)
| • endonuclease activity (GO:0004519) | • DNA binding (GO:0003677) |
| • DNA repair (GO:0006281) | • homologous recombination (GO:0035825) |
| • interstrand crosslink repair (GO:0036297) | • nucleus (GO:0005634) |
Pathways
• Homologous recombination (Reactome R-HSA-5693571)
• Resolution of D-loop structures (Reactome R-HSA-5693579)
• Fanconi anemia pathway (KEGG hsa03460)
• DNA double-strand break repair (Reactome R-HSA-5693606)
Protein Summary
MUS81 is a 551-amino acid protein (55 kDa) that contains an ERCC4-like nuclease domain. It forms a stable heterodimer with EME1, which is required for its catalytic activity. The complex preferentially cleaves 3' flap structures and nicked Holliday junctions. MUS81 is cell cycle-regulated, with peak expression in S and G2 phases, and localizes to replication forks and sites of DNA damage. Post-translational modifications include phosphorylation by CDK and ATM, which regulate its activity and recruitment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MUS81 Knockout HEK293 Cell Line | EDJ-KQ51735 | Human | 80198 | Details Get a Quote |
| MUS81 Knockout HeLa Cell Line | EDJ-KQ57308 | Human | 80198 | Details Get a Quote |
| MUS81 Knockout A-549 Cell Line | EDJ-KQ65816 | Human | 80198 | Details Get a Quote |
| MUS81 Knockout HCT 116 Cell Line | EDJ-KQ74239 | Human | 80198 | Details Get a Quote |
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