ACTR5: Actin-Related Protein 5
A component of the INO80 chromatin remodeling complex involved in DNA repair and transcription regulation.
Gene Information Card
| Symbol | ACTR5 |
|---|---|
| Full Name | actin related protein 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 79913 ncbi.nlm.nih.gov/gene/79913 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9H9F9 |
| OMIM ID | 612192 |
| HGNC ID | 24072 |
| Aliases | ARP5, INO80M |
Description
ACTR5 (actin related protein 5) encodes a member of the actin-related protein family that is a core component of the INO80 chromatin remodeling complex. This complex is involved in DNA repair, replication, and transcription regulation. ACTR5 is essential for the structural integrity and ATPase activity of the INO80 complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | ACTR5 mutations may impair INO80 complex function, leading to genomic instability and altered gene expression. | COSMIC database reports somatic mutations in various cancers. |
| Developmental disorders | Loss-of-function variants in ACTR5 are associated with neurodevelopmental phenotypes. | ClinVar and literature (PMID: 31064749) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 6.1 | Low |
| Brain | 4.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 10.1 | RNA expression moderate |
| HeLa (cervical) | 7.5 | RNA expression low |
| HEK293 (embryonic kidney) | 6.9 | RNA expression low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.1% | Loss of function; truncation |
| c.1523G>A (p.Arg508His) | Missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein are predicted to cause loss of function, impairing INO80 complex assembly.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0005634 (nucleus) |
| • GO:0031010 (INO80-type complex) | • GO:0006281 (DNA repair) |
| • GO:0006351 (transcription | • DNA-templated) |
Pathways
• Chromatin remodeling by INO80 complex
• DNA double-strand break repair via homologous recombination
Protein Summary
ACTR5 is a 625-amino acid actin-related protein that localizes to the nucleus and is a stable component of the INO80 chromatin remodeling complex. It contains an actin-like fold but lacks ATPase activity. ACTR5 is required for the complex's structural integrity and its roles in DNA repair and transcription.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACTR5 Knockout HEK293 Cell Line | EDJ-KQ11264 | Human | 79913 | Details Get a Quote |
| ACTR5 Knockout A-549 Cell Line | EDJ-KQ39369 | Human | 79913 | Details Get a Quote |
| ACTR5 Knockout HCT 116 Cell Line | EDJ-KQ39370 | Human | 79913 | Details Get a Quote |
| ACTR5 Knockout HeLa Cell Line | EDJ-KQ39371 | Human | 79913 | Details Get a Quote |
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