SMARCC1
SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin Subfamily C Member 1
Gene Information Card
| Symbol | SMARCC1 |
|---|---|
| Full Name | SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin Subfamily C Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 6599 ncbi.nlm.nih.gov/gene/6599 |
| Ensembl ID | ENSG00000173473 |
| UniProt ID | Q92922 |
| OMIM ID | 601732 |
| HGNC ID | 11104 |
| Aliases | BAF155, CRACC1, Rsc8, SWI3 |
Description
SMARCC1 encodes a core subunit of the SWI/SNF chromatin remodeling complex, BAF155, which regulates gene expression by altering nucleosome positioning. It is essential for development, cell differentiation, and tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coffin-Siris syndrome | Loss-of-function mutations in SMARCC1 impair SWI/SNF complex activity, leading to developmental abnormalities. | ClinVar, OMIM |
| Schizophrenia | Rare variants in SMARCC1 may disrupt chromatin regulation in neurons. | ClinVar, NCBI |
| Cancer (multiple types) | SMARCC1 mutations or reduced expression contribute to tumorigenesis via altered chromatin remodeling. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Testis | 15.2 | High |
| Lung | 9.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.5 | Medium expression |
| K562 | 9.2 | Medium expression |
| HepG2 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function, associated with Coffin-Siris syndrome |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function, reported in cancer |
| c.890A>G (p.Gln297Arg) | Missense | 0.2% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, reducing SWI/SNF complex integrity.
Gain of Function (GOF)
Not well documented; potential missense mutations may alter chromatin targeting.
Dominant Negative (DN)
Truncated BAF155 may interfere with wild-type complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • chromatin remodeling | • nucleosome disassembly |
| • transcription regulation | • DNA repair |
| • cell cycle |
Pathways
• SWI/SNF complex pathway
• Chromatin organization
• Transcriptional regulation by BAF complex
Protein Summary
BAF155 is a 1105-amino acid protein containing a SWIRM domain and a SANT domain, mediating interactions with other SWI/SNF subunits and histones. It is ubiquitously expressed and critical for ATP-dependent chromatin remodeling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMARCC1 Knockout HEK293 Cell Line | EDJ-KQ5803 | Human | 6599 | Details Get a Quote |
| SMARCC1 Knockout A-549 Cell Line | EDJ-KQ29220 | Human | 6599 | Details Get a Quote |
| SMARCC1 Knockout HCT 116 Cell Line | EDJ-KQ29221 | Human | 6599 | Details Get a Quote |
| SMARCC1 Knockout HeLa Cell Line | EDJ-KQ29222 | Human | 6599 | Details Get a Quote |
| SMARCC1 Knockout HAP1 Cell Line | EDC08278 | Human | 6599 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
