ACTN1 Gene: Alpha-Actinin-1
Key regulator of cytoskeletal structure and platelet function
Gene Information Card
| Symbol | ACTN1 |
|---|---|
| Full Name | Actinin alpha 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.1 |
| NCBI Gene ID | 87 ncbi.nlm.nih.gov/gene/87 |
| Ensembl ID | ENSG00000072110 |
| UniProt ID | P12814 |
| OMIM ID | 102575 |
| HGNC ID | 163 |
| Aliases | BDPLT15, alpha-actinin-1, actinin-1 |
Description
The ACTN1 gene encodes alpha-actinin-1, a member of the spectrin family of actin-binding proteins. Alpha-actinin-1 cross-links actin filaments and anchors them to the cell membrane, playing a critical role in cytoskeletal organization, cell adhesion, and platelet function. Mutations in ACTN1 are associated with autosomal dominant bleeding disorder due to ACTN1 deficiency (BDPLT15).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bleeding disorder due to ACTN1 deficiency (BDPLT15) | Loss-of-function mutations impair actin cross-linking in platelets, leading to macrothrombocytopenia and bleeding tendency | ClinVar, OMIM |
| Thrombocytopenia | Defective platelet production due to cytoskeletal abnormalities | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 12.2 | Medium |
| Skeletal muscle | 58.3 | High |
| Heart | 42.1 | High |
| Brain | 18.5 | Medium |
| Liver | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 25.4 | High expression |
| K562 | 15.8 | Moderate expression |
| HeLa | 20.1 | Moderate expression |
| Platelets | 30.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.740G>A (p.Arg247Gln) | Missense | Rare | Reduced actin-binding affinity; associated with BDPLT15 |
| c.223C>T (p.Arg75Cys) | Missense | Rare | Impaired protein stability; linked to thrombocytopenia |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression; pathogenic |
Mutation functional classification
Loss of Function (LOF)
Most ACTN1 mutations cause loss of function by reducing actin-binding or protein stability, leading to platelet cytoskeletal defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by incorporating mutant protein into actin filaments, disrupting normal cross-linking.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • actin filament binding (GO:0051015) |
| • structural constituent of cytoskeleton (GO:0005200) | • cell adhesion (GO:0007155) |
| • platelet aggregation (GO:0070527) |
Pathways
• Actin cytoskeleton regulation (Reactome R-HSA-5663222)
• Platelet activation
• signaling and aggregation (Reactome R-HSA-76002)
• Focal adhesion (KEGG hsa04510)
Protein Summary
Alpha-actinin-1 is a 100 kDa protein that forms antiparallel homodimers, cross-linking actin filaments. It contains an N-terminal actin-binding domain, a central rod domain with spectrin repeats, and a C-terminal calmodulin-like domain. The protein is highly expressed in platelets and muscle, where it stabilizes the cytoskeleton and links integrins to actin. Mutations disrupt platelet formation and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACTN1 Knockout HEK293T Cell Line | EDJ-KQ99 | Human | 87 | Details Get a Quote |
| ACTN1 Knockout HEK293 Cell Line | EDJ-KQ2589 | Human | 87 | Details Get a Quote |
| ACTN1 Knockout HeLa Cell Line | EDJ-KQ21914 | Human | 87 | Details Get a Quote |
| ACTN1 Knockout A-549 Cell Line | EDJ-KQ23278 | Human | 87 | Details Get a Quote |
| ACTN1 Knockout HCT 116 Cell Line | EDJ-KQ23279 | Human | 87 | Details Get a Quote |
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