TNNC1 Gene (Troponin C1, Slow Skeletal and Cardiac Type)
Essential Calcium-Binding Subunit of the Troponin Complex in Cardiac and Slow-Twitch Skeletal Muscle
Gene Information Card
| Symbol | TNNC1 |
|---|---|
| Full Name | Troponin C1, Slow Skeletal and Cardiac Type |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.1 |
| NCBI Gene ID | 7134 ncbi.nlm.nih.gov/gene/7134 |
| Ensembl ID | ENSG00000114854 |
| UniProt ID | P63316 |
| OMIM ID | 191040 |
| HGNC ID | 11946 |
| Aliases | TNNC, troponin C, slow, TNNC1, CMD1Z, CMH13 |
Description
The TNNC1 gene encodes troponin C1, the calcium-binding subunit of the troponin complex in cardiac muscle and slow-twitch skeletal muscle. It plays a central role in regulating muscle contraction by binding calcium ions and inducing conformational changes that allow actin-myosin interaction. Mutations in TNNC1 are associated with hypertrophic cardiomyopathy (CMH13) and dilated cardiomyopathy (CMD1Z).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertrophic Cardiomyopathy 13 (CMH13) | Altered calcium sensitivity of the troponin complex disrupts sarcomere function, leading to hypertrophy | ClinVar, OMIM |
| Dilated Cardiomyopathy 1Z (CMD1Z) | Reduced calcium affinity impairs contractile force generation, causing ventricular dilation | ClinVar, OMIM |
| Left Ventricular Noncompaction | Disrupted calcium handling may contribute to abnormal myocardial development | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 38.5 | High |
| Skeletal Muscle | 12.3 | Medium |
| Esophagus | 2.1 | Low |
| Adipose Tissue | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 45.2 | High expression |
| Skeletal Muscle Myoblasts | 15.6 | Moderate expression |
| HeLa | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.363C>A (p.Asp121Glu) | Missense | Rare | Alters calcium binding affinity; associated with HCM |
| c.244G>A (p.Gly82Ser) | Missense | Rare | Reduces calcium sensitivity; linked to DCM |
| c.434C>T (p.Ala145Val) | Missense | Rare | Impairs troponin I interaction; HCM phenotype |
Mutation functional classification
Loss of Function (LOF)
Mutations reducing calcium affinity (e.g., p.Gly82Ser) impair contractile activation, leading to DCM.
Gain of Function (GOF)
Mutations increasing calcium sensitivity (e.g., p.Asp121Glu) enhance contractility, predisposing to HCM.
Dominant Negative (DN)
Mutant TNNC1 proteins can incorporate into the troponin complex and disrupt normal function in a dominant manner.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • troponin complex |
| • muscle contraction | • regulation of striated muscle contraction |
| • calcium-dependent ATPase activity |
Pathways
• Cardiac muscle contraction (KEGG: hsa04260)
• Hypertrophic cardiomyopathy (KEGG: hsa05410)
• Dilated cardiomyopathy (KEGG: hsa05414)
• Troponin complex assembly
Protein Summary
Troponin C1 (TnC) is a 161-amino acid protein with two EF-hand calcium-binding domains. In cardiac and slow skeletal muscle, it binds calcium released from the sarcoplasmic reticulum, triggering a conformational change that moves tropomyosin away from actin-binding sites, enabling cross-bridge cycling. The protein is highly conserved and essential for normal heart and slow-twitch muscle function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TNNC1 Knockout HEK293 Cell Line | EDJ-KQ1632 | Human | 7134 | Details Get a Quote |
| TNNC1 Knockout A-549 Cell Line | EDJ-KQ19998 | Human | 7134 | Details Get a Quote |
| TNNC1 Knockout HCT 116 Cell Line | EDJ-KQ21346 | Human | 7134 | Details Get a Quote |
| TNNC1 Knockout HeLa Cell Line | EDJ-KQ21347 | Human | 7134 | Details Get a Quote |
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