SMARCD1: SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily D, Member 1
A core component of the SWI/SNF chromatin remodeling complex involved in transcriptional regulation and tumor suppression.
Gene Information Card
| Symbol | SMARCD1 |
|---|---|
| Full Name | SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily D, Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 6602 ncbi.nlm.nih.gov/gene/6602 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | Q96GM5 |
| OMIM ID | 601735 |
| HGNC ID | 11107 |
| Aliases | BAF60A, CRACD1, Rsc6p |
Description
SMARCD1 encodes a member of the SWI/SNF family of chromatin remodeling complexes. This protein is a core subunit (BAF60A) that mediates interactions between the complex and transcription factors, facilitating ATP-dependent nucleosome remodeling. It plays a role in cell differentiation, proliferation, and tumor suppression. Mutations and altered expression of SMARCD1 have been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Coffin-Siris syndrome | Loss-of-function mutations in SMARCD1 disrupt SWI/SNF complex assembly, leading to impaired chromatin remodeling and transcriptional dysregulation during development. | ClinVar, OMIM |
| Schwannomatosis | Somatic mutations in SMARCD1 (e.g., p.Arg377*) are associated with schwannoma formation, likely through loss of tumor suppressor function. | COSMIC, ClinVar |
| Breast cancer | Reduced SMARCD1 expression correlates with poor prognosis; loss of BAF60A impairs SWI/SNF-mediated repression of oncogenic pathways. | NCBI Gene, COSMIC |
| Lung cancer | SMARCD1 mutations (e.g., missense) are found in lung adenocarcinoma, potentially altering chromatin accessibility at tumor suppressor loci. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Liver | 8.1 | Low |
| Lung | 9.5 | Low |
| Kidney | 11.3 | Medium |
| Testis | 15.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HeLa | 11.8 | Medium expression |
| A549 | 9.1 | Low expression |
| MCF7 | 10.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1129C>T (p.Arg377*) | Nonsense | <0.1% in general population | Truncation; loss of function; associated with schwannomatosis |
| c.437G>A (p.Arg146Gln) | Missense | <0.01% | Reduced protein stability; reported in Coffin-Siris syndrome |
| c.784_785del (p.Leu262fs) | Frameshift | Rare | Loss of function; tumor suppressor inactivation in cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg377*, p.Leu262fs) result in truncated or unstable protein, impairing SWI/SNF complex integrity and chromatin remodeling activity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported for SMARCD1.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg146Gln) may disrupt protein-protein interactions within the SWI/SNF complex, potentially exerting dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • chromatin remodeling (GO:0006338) | • nucleus (GO:0005634) |
| • RSC-type complex (GO:0016586) | • histone binding (GO:0042393) |
| • transcription coregulator activity (GO:0003712) |
Pathways
• SWI/SNF chromatin remodeling complex (RSC)
• Chromatin organization
• Transcriptional regulation by SMARCD1
Protein Summary
SMARCD1 (BAF60A) is a 60 kDa protein that contains a SWIB domain and a conserved region for interaction with transcription factors and other SWI/SNF subunits. It is ubiquitously expressed and localizes to the nucleus. The protein acts as a bridge between sequence-specific transcription factors and the SWI/SNF ATPase core, enabling targeted nucleosome mobilization. Loss of SMARCD1 function leads to aberrant gene expression profiles associated with developmental syndromes and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMARCD1 Knockout HEK293 Cell Line | EDJ-KQ2404 | Human | 6602 | Details Get a Quote |
| SMARCD1 Knockout A-549 Cell Line | EDJ-KQ22894 | Human | 6602 | Details Get a Quote |
| SMARCD1 Knockout HCT 116 Cell Line | EDJ-KQ22895 | Human | 6602 | Details Get a Quote |
| SMARCD1 Knockout HeLa Cell Line | EDJ-KQ22896 | Human | 6602 | Details Get a Quote |
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