TONSL Gene Summary [Human]
The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq, Jul 2008]
Details
| Type | Retained Intron |
| Official Symbol | TONSL |
| Official Name | tonsoku like, DNA repair protein [Source:HGNC Symbol;Acc:HGNC:7801] |
| Ensembl ID | ENSG00000160949 |
| Bio databases IDs | |
| Aliases | tonsoku like, DNA repair protein |
| Synonyms | 2810439M11Rik, IKBR, NFKBIL2, SEMDSP, tonsoku-like, DNA repair protein |
| 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 TONSL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- histone binding
- Ankyrin repeats (many copies)
- protein phosphatase 1 regulatory subunit 42
- protein binding activity, bridging
- Ankyrin repeats (3 copies)
- Leucine rich repeat
- protein binding
- tetratricopeptide repeat
- Ankyrin repeat
- ankyrin repeats
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- spondyloepimetaphyseal dysplasia sponastrime type
- lung adenocarcinoma
- lung adenocarcinoma formation
- hereditary disorder
- severe COVID-19
- ovarian carcinoma
- epithelial ovarian cancer
role in cell
- cell viability
- phosphorylation in
- formation
- formation in
- quantity
- G2 phase
- processing
- genomic stability
- homologous recombination in
- loading in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- nucleoplasm
- nuclear bodies
- replication fork
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TONSL 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
- FACT complex
- nuclear body
- site of double-strand break
- cytoplasm
- nuclear replication fork
- DNA replication factor A complex
- MCM complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- histone binding