EME1 Gene Summary [Human]
This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | EME1 |
| Official Name | essential meiotic structure-specific endonuclease 1 [Source:HGNC Symbol;Acc:HGNC:24965] |
| Ensembl ID | ENSG00000154920 |
| Bio databases IDs | |
| Aliases | essential meiotic structure-specific endonuclease 1, SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae) |
| Synonyms | 6820428D13, EME1A, essential meiotic structure-specific endonuclease 1, MMS4, MMS4L, SLX2A |
| Species | Human, Homo sapiens |
| Orthologies |
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 EME1 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
- zDHHC ankyrin repeat binding domain
- nuclease domain of XPF/MUS81 family proteins
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- polycystic ovary syndrome
- lung adenocarcinoma
- lung adenocarcinoma formation
regulates
- replicative intermediate
- double-stranded DNA
role in cell
- growth
- proliferation
- quantity
- formation
- formation in
- G2/M phase
- colony survival
- breakage
- sister chromatid exchange
- instability
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
- heterochromatin
- nucleoplasm
- nucleoli
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EME1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- 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
- heterochromatin
- Holliday junction resolvase complex
- nuclear replication fork
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- metal ion binding
- crossover junction endodeoxyribonuclease activity