SS18L1 Gene - SS18 Like 1
A component of the SWI/SNF chromatin remodeling complex involved in transcriptional regulation and synaptic plasticity.
Gene Information Card
| Symbol | SS18L1 |
|---|---|
| Full Name | SS18 Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 26039 ncbi.nlm.nih.gov/gene/26039 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | O75177 |
| OMIM ID | 606472 |
| HGNC ID | 15595 |
| Aliases | CREST, NEDCAS, p60, SS18L1 |
Description
SS18L1 (SS18 Like 1) encodes a protein that is a component of the SWI/SNF chromatin remodeling complex. This complex plays a critical role in regulating gene expression by altering chromatin structure. SS18L1 is involved in transcriptional activation and repression, and is particularly important for synaptic plasticity and neuronal development. Mutations in this gene are associated with neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with cerebellar atrophy and spasticity (NEDCAS) | Loss-of-function mutations in SS18L1 disrupt SWI/SNF complex function, leading to impaired chromatin remodeling and gene expression dysregulation in neurons. | ClinVar, OMIM |
| Intellectual disability | Deleterious variants in SS18L1 are associated with intellectual disability, likely due to altered synaptic plasticity. | ClinVar |
| Autism spectrum disorder | Rare variants in SS18L1 have been reported in individuals with autism, suggesting a role in neurodevelopment. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 8.7 | Low |
| Heart | 6.3 | Low |
| Lung | 4.1 | Low |
| Liver | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.5 | Neuronal model |
| HEK293 (embryonic kidney) | 9.8 | Common cell line |
| HeLa (cervical carcinoma) | 7.2 | Epithelial model |
| K562 (leukemia) | 3.4 | Myeloid model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38*) | Nonsense | Rare | Loss of function; associated with NEDCAS |
| c.457G>A (p.Gly153Arg) | Missense | Rare | Likely damaging; reported in intellectual disability |
| c.784_785del (p.Leu262fs) | Frameshift | Rare | Loss of function; reported in autism spectrum disorder |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, disrupting SWI/SNF complex activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations may exert dominant-negative effects by incorporating into the SWI/SNF complex and impairing its function.
View complete mutation data：
Gene Ontology (GO)
| • chromatin remodeling | • transcriptional regulation |
| • SWI/SNF complex | • synaptic plasticity |
| • nucleosome disassembly |
Pathways
• Chromatin organization
• SWI/SNF complex-mediated transcription
• Neuronal development
Protein Summary
The SS18L1 protein (UniProt O75177) is a 418-amino acid component of the SWI/SNF chromatin remodeling complex. It contains a conserved SS18 domain and interacts with other complex subunits to facilitate ATP-dependent nucleosome remodeling. The protein is highly expressed in brain tissues and is essential for proper neuronal gene expression and synaptic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SS18L1 Knockout HEK293 Cell Line | EDJ-KQ7693 | Human | 26039 | Details Get a Quote |
| SS18L1 Knockout A-549 Cell Line | EDJ-KQ34403 | Human | 26039 | Details Get a Quote |
| SS18L1 Knockout HCT 116 Cell Line | EDJ-KQ34405 | Human | 26039 | Details Get a Quote |
| SS18L1 Knockout HeLa Cell Line | EDJ-KQ34406 | Human | 26039 | Details Get a Quote |
