MMS22L Gene Summary [Human]
The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the histone-associated protein NFKBIL2 to help regulate the chromatin state at stalled replication forks. Finally, this gene appears to be overexpressed in most lung and esophageal cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]
Details
| Type | Protein Coding |
| Official Symbol | MMS22L |
| Official Name | MMS22 like, DNA repair protein [Source:HGNC Symbol;Acc:HGNC:21475] |
| Ensembl ID | ENSG00000146263 |
| Bio databases IDs | |
| Aliases | MMS22 like, DNA repair protein |
| Synonyms | C6orf167, dJ39B17.2, F730047E07Rik, Gm134, MMS22-like, DNA repair protein, RGD1304693 |
| 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 MMS22L often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- S-phase genomic integrity recombination mediator, C-terminal
- single-stranded DNA binding
- S-phase genomic integrity recombination mediator, N-terminal
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diabetic nephropathy
- lung cancer
role in cell
- cell death
- cell viability
- phosphorylation in
- quantity
- activation in
- formation
- formation in
- cell cycle progression
- synthesis in
- G2 phase
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
- cytosol
- nucleoplasm
- replication fork
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MMS22L gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein localization to chromatin
- double-strand break repair via homologous recombination
- replication fork processing
- chromatin organization
Cellular Component
Where in the cell the gene product is active
- nucleus
- FACT complex
- site of double-strand break
- nuclear replication fork
- cytosol
- MCM complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- single-stranded DNA binding