ACTC1 Gene - Actin Alpha Cardiac Muscle 1
Key sarcomeric gene in cardiac muscle contraction and cardiomyopathy
Gene Information Card
| Symbol | ACTC1 |
|---|---|
| Full Name | Actin Alpha Cardiac Muscle 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q14 |
| NCBI Gene ID | 70 ncbi.nlm.nih.gov/gene/70 |
| Ensembl ID | ENSG00000159251 |
| UniProt ID | P68032 |
| OMIM ID | 102540 |
| HGNC ID | 143 |
| Aliases | ACTC, ASD5, CMD1R, CMH11, LVNC4 |
Description
The ACTC1 gene encodes cardiac muscle alpha-actin, a major component of the sarcomeric thin filament in cardiac muscle. This protein is essential for cardiac contractility and force generation. Mutations in ACTC1 are associated with various cardiomyopathies, including dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), and left ventricular noncompaction (LVNC).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated Cardiomyopathy 1R (CMD1R) | Impaired actin-myosin interaction due to missense mutations reducing contractile force | ClinVar, OMIM |
| Hypertrophic Cardiomyopathy 11 (CMH11) | Dominant-negative or gain-of-function mutations increasing calcium sensitivity or sarcomere hypercontractility | ClinVar, OMIM |
| Restrictive Cardiomyopathy | Mutations altering actin dynamics leading to diastolic dysfunction | ClinVar, OMIM |
| Left Ventricular Noncompaction 4 (LVNC4) | Disrupted sarcomere assembly during development | ClinVar, OMIM |
| Atrial Septal Defect 5 (ASD5) | Developmental defects in cardiac morphogenesis | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 127.6 | High |
| Skeletal Muscle | 2.1 | Low |
| Esophagus | 0.8 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 150.2 | High expression |
| Skeletal muscle myoblasts | 3.5 | Low expression |
| HEK293 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Ala295Ser | Missense | Rare | Associated with HCM; increased calcium sensitivity |
| p.Glu101Lys | Missense | Rare | Associated with DCM; reduced actin polymerization |
| p.Met305Leu | Missense | Rare | Associated with RCM; altered thin filament regulation |
| p.Arg312His | Missense | Rare | Associated with LVNC; impaired sarcomere assembly |
Mutation functional classification
Loss of Function (LOF)
Missense mutations that impair actin polymerization or reduce contractile force (e.g., p.Glu101Lys) are loss-of-function and linked to DCM.
Gain of Function (GOF)
Mutations that increase calcium sensitivity or enhance actin-myosin interaction (e.g., p.Ala295Ser) are gain-of-function and linked to HCM.
Dominant Negative (DN)
Mutations that incorporate mutant actin into sarcomeres and disrupt normal filament function (e.g., p.Met305Leu) act via dominant-negative mechanism.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005200 - structural constituent of cytoskeleton | • GO:0005515 - protein binding |
| • GO:0005524 - ATP binding | • GO:0005856 - cytoskeleton |
| • GO:0015629 - actin cytoskeleton | • GO:0030049 - muscle filament sliding |
| • GO:0060048 - cardiac muscle contraction |
Pathways
• Cardiac muscle contraction (KEGG: hsa04260)
• Hypertrophic cardiomyopathy (KEGG: hsa05410)
• Dilated cardiomyopathy (KEGG: hsa05414)
• Actin cytoskeleton regulation (KEGG: hsa04810)
Protein Summary
Cardiac muscle alpha-actin (42 kDa) is a highly conserved protein that forms the core of the thin filament in cardiac sarcomeres. It polymerizes into filamentous actin (F-actin) and interacts with myosin, tropomyosin, and troponin to generate contractile force. The protein is encoded by ACTC1 and is expressed almost exclusively in the heart. Mutations disrupt sarcomere function, leading to a spectrum of cardiomyopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACTC1 Knockout HEK293 Cell Line | EDJ-KQ3854 | Human | 70 | Details Get a Quote |
| ACTC1 Knockout HeLa Cell Line | EDJ-KQ26043 | Human | 70 | Details Get a Quote |
| ACTC1 Knockout A-549 Cell Line | EDJ-KQ61023 | Human | 70 | Details Get a Quote |
| ACTC1 Knockout HCT 116 Cell Line | EDJ-KQ69498 | Human | 70 | Details Get a Quote |
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