ACTR1A
Actin Related Protein 1A
Gene Information Card
| Symbol | ACTR1A |
|---|---|
| Full Name | actin related protein 1A |
| Gene Type | protein coding |
| Chromosomal Location | 10q24.32 |
| NCBI Gene ID | 10121 ncbi.nlm.nih.gov/gene/10121 |
| Ensembl ID | ENSG00000138107 |
| UniProt ID | P61163 |
| OMIM ID | 605143 |
| HGNC ID | 166 |
| Aliases | ARP1, CTRN1 |
Description
ACTR1A encodes a member of the actin-related protein family that is a core component of the dynactin complex. Dynactin binds to both microtubules and cytoplasmic dynein, playing a critical role in retrograde transport of vesicles and organelles along microtubules. The protein is highly conserved and essential for cell division and intracellular motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic lateral sclerosis (ALS) | Impaired dynactin function leads to defective axonal transport, contributing to motor neuron degeneration. | ClinVar, OMIM |
| Peripheral neuropathy | Mutations in ACTR1A disrupt dynein-dynactin interaction, causing axonal transport deficits. | ClinVar |
| Spinal muscular atrophy with lower extremity predominance (SMALED) | Loss of dynactin integrity affects motor neuron survival. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Liver | 8.1 | Low |
| Kidney | 9.4 | Low |
| Testis | 15.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.0 | High expression |
| HEK 293 | 11.5 | Medium expression |
| SH-SY5Y | 13.2 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124G>A (p.Glu42Lys) | Missense | <0.01% | Alters dynactin binding, linked to ALS |
| c.457C>T (p.Arg153Trp) | Missense | <0.01% | Reduced dynein interaction, associated with neuropathy |
Mutation functional classification
Loss of Function (LOF)
Missense mutations impair dynactin assembly and dynein binding, reducing retrograde transport.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Some mutations may act dominant-negative by incorporating into dynactin and disrupting complex function.
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton | • microtubule binding |
| • dynein complex | • intracellular transport |
| • cell division |
Pathways
• Dynactin pathway
• Microtubule-based movement
• Axonal transport
Protein Summary
ACTR1A (ARP1) is a 42 kDa actin-related protein that forms a 37-subunit dynactin complex. It binds directly to cytoplasmic dynein and microtubules, facilitating processive movement. The protein contains an ATP-binding domain and is essential for mitotic spindle orientation and vesicle trafficking.
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