ACTR8: Actin-Related Protein 8 – A Key Component of Chromatin Remodeling Complexes
Comprehensive genomic and proteomic overview of ACTR8, including gene structure, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | ACTR8 |
|---|---|
| Full Name | actin related protein 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 93973 ncbi.nlm.nih.gov/gene/93973 |
| Ensembl ID | ENSG00000113810 |
| UniProt ID | Q9H981 |
| OMIM ID | 612084 |
| HGNC ID | 14667 |
| Aliases | ARP8, INO80K, hARP8 |
Description
ACTR8 (actin related protein 8) encodes a member of the actin-related protein family. The encoded protein is a component of the INO80 chromatin remodeling complex, which is involved in DNA repair, replication, and transcription regulation. ACTR8 localizes to the nucleus and is essential for maintaining genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | ACTR8 overexpression may promote tumorigenesis via altered chromatin remodeling | PMID: 25691885 |
| Colorectal Cancer | ACTR8 mutations and copy number alterations observed in tumor samples | COSMIC analysis |
| Hepatocellular Carcinoma | ACTR8 upregulation correlates with poor prognosis | PMID: 31027757 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 8.3 | Low |
| Lymph Node | 7.1 | Low |
| Brain | 5.2 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Embryonic kidney cells |
| HeLa | 12.8 | Cervical cancer cells |
| MCF7 | 10.5 | Breast cancer cells |
| HepG2 | 9.1 | Liver cancer cells |
| K562 | 7.6 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Pro34Leu) | Missense | <0.1% | Unknown functional impact |
| c.457G>A (p.Glu153Lys) | Missense | <0.1% | Potential loss of function |
| c.789_790insA (p.Arg264fs) | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in ACTR8 are predicted to cause loss of protein function, impairing INO80 complex activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ACTR8.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ACTR8.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 – protein binding | • GO:0005634 – nucleus |
| • GO:0006338 – chromatin remodeling | • GO:0006281 – DNA repair |
| • GO:0035267 – NuA4 histone acetyltransferase complex |
Pathways
• INO80 chromatin remodeling pathway
• DNA double-strand break repair via homologous recombination
Protein Summary
ACTR8 (ARP8) is a 626-amino-acid nuclear actin-related protein that forms part of the INO80 chromatin remodeling complex. It binds histones and nucleosomes, facilitating ATP-dependent chromatin remodeling essential for DNA repair, replication, and transcription. The protein contains an actin-like fold and is highly conserved in eukaryotes.
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