ACTR6: Actin-Related Protein 6 – Chromatin Remodeling and Gene Regulation
A core component of the SWR1-like chromatin remodeling complex, involved in histone exchange and transcriptional regulation.
Gene Information Card
| Symbol | ACTR6 |
|---|---|
| Full Name | actin related protein 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q23.1 |
| NCBI Gene ID | 64421 ncbi.nlm.nih.gov/gene/64421 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q9GZN1 |
| OMIM ID | 607468 |
| HGNC ID | 17024 |
| Aliases | ARP6, BAF53B, hARPX, INO80K |
Description
ACTR6 (actin related protein 6) encodes a member of the actin-related protein family. This protein is a core component of the SWR1-like chromatin remodeling complex, which exchanges histone H2A for H2A.Z to regulate transcription, DNA repair, and chromatin dynamics. ACTR6 is also part of the INO80 complex and is essential for embryonic development and stem cell pluripotency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered chromatin remodeling due to ACTR6 mutations or dysregulation may promote oncogenic transcription programs. | COSMIC database reports somatic mutations in multiple cancer types including colorectal, lung, and breast cancer. |
| Developmental disorders | Loss-of-function variants in ACTR6 may impair histone exchange required for proper embryonic development. | ClinVar lists pathogenic/likely pathogenic variants associated with neurodevelopmental phenotypes. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone marrow | 12.8 | Medium |
| Lymph node | 11.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression in embryonic kidney cells |
| K562 | 14.7 | Leukemia cell line |
| HeLa | 12.1 | Cervical cancer cell line |
| HepG2 | 9.8 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437G>A (p.Arg146Gln) | Missense | 0.02% (gnomAD) | Unknown functional impact; reported in COSMIC |
| c.832C>T (p.Arg278Trp) | Missense | 0.01% (gnomAD) | Predicted damaging by SIFT/PolyPhen; associated with neurodevelopmental disorder in ClinVar |
| c.1054_1055del (p.Leu352ValfsTer3) | Frameshift | Rare | Loss-of-function; likely pathogenic in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the protein are classified as loss-of-function, impairing chromatin remodeling activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ACTR6.
Dominant Negative (DN)
Missense variants in the actin-fold domain may act as dominant-negative by disrupting complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 – protein binding | • GO:0005634 – nucleus |
| • GO:0006338 – chromatin remodeling | • GO:0035064 – regulation of histone acetylation |
| • GO:0043044 – ATP-dependent chromatin remodeling |
Pathways
• SWR1-like complex (H2A.Z exchange)
• INO80 chromatin remodeling complex
• Chromatin organization
Protein Summary
ACTR6 is a 51 kDa actin-related protein that localizes to the nucleus. It contains an actin-like fold and binds ATP. As part of the SWR1 and INO80 complexes, it facilitates the exchange of histone variant H2A.Z, influencing transcription, DNA repair, and chromosome segregation. The protein is highly conserved across eukaryotes.
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