SS18L1 Gene Summary [Human]
This gene encodes a calcium-responsive transactivator which is an essential subunit of a neuron-specific chromatin-remodeling complex. The structure of this gene is similar to that of the SS18 gene. Mutations in this gene are involved in amyotrophic lateral sclerosis (ALS). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
Details
| Type | Protein Coding |
| Official Symbol | SS18L1 |
| Official Name | SS18L1 subunit of BAF chromatin remodeling complex [Source:HGNC Symbol;Acc:HGNC:15592] |
| Ensembl ID | ENSG00000184402 |
| Bio databases IDs | |
| Aliases | SS18L1 subunit of BAF chromatin remodeling complex, calcium-responsive transactivator |
| Synonyms | A230053O16RIK, CREST, LOC192352, LP2261, SMARCL2, SS18L1 subunit of BAF chromatin remodeling complex, SS18, nBAF chromatin remodeling complex subunit like 1 |
| 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 SS18L1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- SSXT protein (N-terminal region)
- protein binding
- transcription factor activity
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- nuclear bodies
- kinetochores
- centromeres
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SS18L1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of transcription, DNA-dependent
- positive regulation of transcription from RNA polymerase II promoter
- chromatin organization
- positive regulation of dendrite morphogenesis
- dendrite development
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
- nBAF complex
- kinetochore
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- transcription coactivator activity