SS18 Gene Summary [Human]
Enables nuclear receptor coactivator activity. Involved in positive regulation of transcription by RNA polymerase II. Part of SWI/SNF complex. Implicated in synovial sarcoma. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | SS18 |
| Official Name | SS18 subunit of BAF chromatin remodeling complex [Source:HGNC Symbol;Acc:HGNC:11340] |
| Ensembl ID | ENSG00000141380 |
| Bio databases IDs | |
| Aliases | SS18 subunit of BAF chromatin remodeling complex |
| Synonyms | D130059H17, SMARCL1, SS18 subunit of BAF chromatin remodeling complex, SS18, subunit of BAF chromatin remodeling complex, SSXT, SYT, SYT-SSX2 |
| 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 SS18 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
- transcription co-activator
- Syt N-terminal homology domain
- QPGY domain
- SSXT protein (N-terminal region)
- 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
- neoplasia
- growth failure
- autoimmune thyroid disease
- tumorigenesis
- bleeding
- rhegmatogenous retinal detachment
role in cell
- proliferation
- growth
- expression in
- formation
- upregulation in
- cell cycle progression
- adhesion
- binding in
- ubiquitination in
- stability
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
- nuclear fraction
- microtubule cytoskeleton
- Cytoplasm
- actin cytoskeleton
- nuclear foci
- nucleoplasm
- actin stress fibers
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SS18 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chromatin remodeling
- negative regulation of cell differentiation
- cell morphogenesis
- ephrin receptor signaling pathway
- positive regulation of cell proliferation
- response to xenobiotic stimulus
- microtubule cytoskeleton organization
- positive regulation of transcription from RNA polymerase II promoter
- neuronal stem cell maintenance
- intracellular signal transduction
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- SWI/SNF complex
- nucleus
- microtubule cytoskeleton
- npBAF complex
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein binding
- transcription coactivator activity
- ligand-dependent nuclear receptor transcription coactivator activity