ACTL6A Gene - Actin Like 6A
A core component of the SWI/SNF chromatin remodeling complex, involved in transcriptional regulation and development.
Gene Information Card
| Symbol | ACTL6A |
|---|---|
| Full Name | Actin Like 6A |
| Gene Type | Protein coding |
| Chromosomal Location | 3q26.33 |
| NCBI Gene ID | 86 ncbi.nlm.nih.gov/gene/86 |
| Ensembl ID | ENSG00000136518 |
| UniProt ID | O96019 |
| OMIM ID | 604958 |
| HGNC ID | 241 |
| Aliases | BAF53A, Arp4, INO80K |
Description
ACTL6A encodes a member of the actin-related protein (Arp) family. This protein is a core component of the SWI/SNF (BAF) chromatin remodeling complex and the INO80 complex, where it plays a critical role in ATP-dependent chromatin remodeling, transcriptional activation, and DNA repair. It is essential for embryonic development and stem cell pluripotency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and dysmorphic features | Loss-of-function mutations in ACTL6A impair SWI/SNF complex function, leading to transcriptional dysregulation during brain development. | ClinVar, OMIM |
| Coffin-Siris syndrome (CSS) | De novo missense variants in ACTL6A disrupt BAF complex assembly and chromatin remodeling, causing developmental delay and intellectual disability. | ClinVar, OMIM |
| Hepatocellular carcinoma | Overexpression of ACTL6A promotes cell proliferation and metastasis via activation of the Wnt/β-catenin pathway. | COSMIC, NCBI |
| Breast cancer | ACTL6A amplification and overexpression correlate with poor prognosis and enhanced tumor growth through SWI/SNF complex activity. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 8.1 | Low |
| Lung | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 22.3 | High expression |
| HeLa (cervical) | 18.7 | Medium expression |
| HepG2 (liver) | 9.5 | Low expression |
| A549 (lung) | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.107C>T (p.Pro36Leu) | Missense | Rare | Loss of BAF complex binding; associated with Coffin-Siris syndrome |
| c.416G>A (p.Arg139Gln) | Missense | Rare | Impaired chromatin remodeling; neurodevelopmental disorder |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein function; severe developmental phenotype |
| Amplification (3q26.33) | Copy number gain | Common in HCC | Overexpression; oncogenic activation |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations that reduce or abolish ACTL6A protein expression or its incorporation into SWI/SNF complexes, leading to impaired chromatin remodeling and transcriptional dysregulation.
Gain of Function (GOF)
Gene amplification and overexpression in cancers (e.g., hepatocellular carcinoma) enhance SWI/SNF complex activity, promoting cell proliferation and metastasis.
Dominant Negative (DN)
Some missense variants (e.g., p.Pro36Leu) may produce a protein that competes with wild-type ACTL6A for complex assembly, disrupting normal BAF complex function.
View complete mutation data：
Gene Ontology (GO)
| • GO:0006338 - chromatin remodeling | • GO:0005634 - nucleus |
| • GO:0016581 - SWI/SNF complex | • GO:0005524 - ATP binding |
| • GO:0043966 - histone H3 acetylation | • GO:0006281 - DNA repair |
Pathways
• Chromatin remodeling by SWI/SNF (BAF) complex
• INO80 chromatin remodeling pathway
• Wnt/β-catenin signaling (via ACTL6A overexpression in cancer)
Protein Summary
ACTL6A (BAF53A) is a 429-amino acid actin-related protein that serves as a structural component of the SWI/SNF and INO80 chromatin remodeling complexes. It binds ATP and is essential for complex stability and nucleosome mobilization. The protein is highly conserved and ubiquitously expressed, with highest levels in testis and brain. Mutations in ACTL6A cause neurodevelopmental disorders, while overexpression is oncogenic in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID |
|---|
