SMARCA1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily A, Member 1)
A chromatin remodeling ATPase involved in neural development and implicated in cancer and neurodevelopmental disorders.
Gene Information Card
| Symbol | SMARCA1 |
|---|---|
| Full Name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 |
| Gene Type | protein coding |
| Chromosomal Location | Xq25 |
| NCBI Gene ID | 6599 ncbi.nlm.nih.gov/gene/6599 |
| Ensembl ID | ENSG00000102054 |
| UniProt ID | P28370 |
| OMIM ID | 300012 |
| HGNC ID | 11098 |
| Aliases | SWI2, SNF2, NURF140, hSNF2L |
Description
SMARCA1 encodes a member of the SWI/SNF family of chromatin remodeling proteins. It is an ATP-dependent helicase that regulates gene expression by altering chromatin structure. SMARCA1 is a core component of the NURF (nucleosome remodeling factor) complex, which is essential for chromatin remodeling during development, particularly in the nervous system. It is involved in transcriptional regulation, DNA repair, and cell cycle control. Mutations and altered expression of SMARCA1 have been linked to various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may disrupt chromatin remodeling, leading to aberrant gene expression and tumorigenesis. | COSMIC: SMARCA1 mutations found in multiple cancer types; ClinVar: variants reported in cancer. |
| Neurodevelopmental disorders | SMARCA1 is critical for neural development; mutations may impair neuronal differentiation and function. | ClinVar: variants associated with intellectual disability and developmental delay. |
| Coffin-Siris syndrome (potential) | Mutations in SWI/SNF genes cause Coffin-Siris syndrome; SMARCA1 may be a candidate gene. | OMIM: related disorders; ClinVar: variants in SMARCA1 with uncertain significance. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | Highest expression in brain, especially in neurons. |
| Testis | Moderate | Expressed in testis. |
| Lung | Low | Low expression. |
| Liver | Low | Low expression. |
| Kidney | Low | Low expression. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | High | Neuronal cell line with high SMARCA1 expression. |
| HeLa (cervical cancer) | Moderate | Moderate expression. |
| A549 (lung cancer) | Low | Low expression. |
| HepG2 (liver cancer) | Low | Low expression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2546A>G (p.Glu849Gly) | Missense | Rare | Potential impact on ATPase activity; clinical significance uncertain. |
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare | Predicted to cause loss of function; associated with neurodevelopmental phenotypes. |
| c.789_790del (p.Glu264fs) | Frameshift | Rare | Loss of function; likely pathogenic. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (nonsense, frameshift) are expected to reduce SMARCA1 protein levels or activity, impairing chromatin remodeling and leading to developmental defects or cancer.
Gain of Function (GOF)
Gain-of-function mutations are not well characterized; some missense variants may alter ATPase activity or substrate specificity, potentially contributing to oncogenesis.
Dominant Negative (DN)
Dominant-negative effects are possible if mutant SMARCA1 proteins interfere with the assembly or function of the NURF complex, disrupting chromatin remodeling.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • DNA binding |
| • helicase activity | • chromatin binding |
| • nucleosome remodeling | • regulation of transcription |
| • DNA-templated | • nervous system development |
Pathways
• Chromatin remodeling
• NURF complex pathway
• Transcriptional regulation
• DNA damage response
Protein Summary
SMARCA1 is a 140 kDa protein that functions as an ATP-dependent chromatin remodeler. It contains a helicase ATP-binding domain and a SNF2-related domain. As part of the NURF complex, it slides nucleosomes to regulate gene expression. SMARCA1 is highly expressed in the brain and is essential for neuronal development. It also plays roles in DNA repair and cell cycle progression. Post-translational modifications and interactions with other proteins modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMARCA1 Knockout Huh-7 Cell Line | EDJ-KQ45 | Human | 6594 | Details Get a Quote |
| SMARCA1 Knockout HEK293 Cell Line | EDJ-KQ5054 | Human | 6594 | Details Get a Quote |
| SMARCA1 Knockout A-549 Cell Line | EDJ-KQ29216 | Human | 6594 | Details Get a Quote |
| SMARCA1 Knockout HCT 116 Cell Line | EDJ-KQ29218 | Human | 6594 | Details Get a Quote |
| SMARCA1 Knockout HeLa Cell Line | EDJ-KQ29219 | Human | 6594 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
