MUS81 Gene Summary [Human]

This gene encodes a structure-specific endonuclease which belongs to the XPF/MUS81 endonuclease family and plays a critical role in the resolution of recombination intermediates during DNA repair after inter-strand cross-links, replication fork collapse, and DNA double-strand breaks. The encoded protein associates with one of two closely related essential meiotic endonuclease proteins (EME1 or EME2) to form a complex that processes DNA secondary structures. It contains an N-terminal DEAH helicase domain, an excision repair cross complementation group 4 (ERCC4) endonuclease domain, and two tandem C-terminal helix-hairpin-helix domains. Mice with a homozygous knockout of the orthologous gene have significant meiotic defects including the failure to repair a subset of DNA double strand breaks. [provided by RefSeq, Jun 2017]

Details

Type
Protein Coding
Official Symbol
MUS81
Official Name
MUS81 structure-specific endonuclease subunit [Source:HGNC Symbol;Acc:HGNC:29814]
Ensembl ID
ENSG00000172732
Bio databases IDs NCBI: 80198 Ensembl: ENSG00000172732
Aliases MUS81 structure-specific endonuclease subunit, SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)
Synonyms 1200008A18Rik, AW045863, MUS81 structure-specific endonuclease subunit, SLX3
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MUS81 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • endonuclease
  • ERCC4 domain
  • enzyme
  • protein binding
  • PDDEXK family nucleases
  • 3' flap endonuclease
  • nuclease domain of XPF/MUS81 family proteins

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • epithelial neoplasia
  • benign neoplasia
  • lymphoid cancer
  • lymphatic neoplasia
  • lymphomagenesis
  • cancer
  • hematologic cancer
  • hematological neoplasia
  • neoplasia
  • aneurysm
regulated by
regulates
role in cell
  • cell death
  • expression in
  • phosphorylation in
  • formation in
  • production in
  • morphology
  • formation
  • survival
  • activation in
  • proliferation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nucleoplasm
  • nucleoli
  • replication fork

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MUS81 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • DNA repair
  • DNA catabolic process
  • double-strand break repair via break-induced replication
  • osteoblast proliferation
  • resolution of meiotic recombination intermediates
  • replication fork processing
  • intra-S DNA damage checkpoint
  • response to intra-S DNA damage checkpoint signal
  • double-strand break repair

Cellular Component

Where in the cell the gene product is active
  • replication fork
  • nucleus
  • Holliday junction resolvase complex
  • nuclear replication fork
  • nucleolus
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • DNA binding
  • protein binding
  • 3'-flap endonuclease activity
  • metal ion binding
  • endonuclease activity
  • crossover junction endodeoxyribonuclease activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.