TNNC1 - troponin C1, slow skeletal and cardiac type Gene
Also Known as TNC; TN-C; TNNC; CMD1Z; CMH13
Species: Homo sapiens
About TNNC1
This gene has 3 transcripts (splice variants), 207 orthologues, 1 paralogue and is associated with 5 phenotypes. Restricted expression toward heart (RPKM 1964.8).
Summary
Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with Myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z. [provided by RefSeq, Oct 2008]
TNNC1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_003280.3 | NP_003271.1 | troponin C, slow skeletal and cardiac muscles |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables calcium ion binding |
IDA
IDA: Inferred from direct assay
|
12840750 | GOA |
| enables calcium-dependent protein binding |
IPI
IPI: Inferred from physical interaction
|
7957210 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10806205 | GOA |
| enables protein homodimerization activity |
IDA
IDA: Inferred from direct assay
|
18092822 | GOA |
| enables troponin I binding |
IDA
IDA: Inferred from direct assay
|
18092822 | GOA |
| enables troponin I binding |
IPI
IPI: Inferred from physical interaction
|
7957210 | GOA |
| enables troponin T binding |
IPI
IPI: Inferred from physical interaction
|
8205619 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cardiac muscle contraction |
IDA
IDA: Inferred from direct assay
|
25771144 | GOA |
| involved in cardiac muscle contraction |
IMP
IMP: Inferred from mutant phenotype
|
15542288 | GOA |
| involved in regulation of muscle contraction |
IDA
IDA: Inferred from direct assay
|
18092822 | GOA |
| involved in ventricular cardiac muscle tissue morphogenesis |
IMP
IMP: Inferred from mutant phenotype
|
15542288 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of cardiac Troponin complex |
IDA
IDA: Inferred from direct assay
|
25771144 | GOA |
| part of troponin complex |
IDA
IDA: Inferred from direct assay
|
10850966 | GOA |
TNNC1 Protein Structure
EF-hand_8: EF-hand domain pair (32 - 83)
EF-hand_7: EF-hand domain pair (97 - 157)
- 0
- 100
- 161 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
troponin C, slow skeletal and cardiac muscles |
|
TNNC1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TNNC1 | P63316 | TNNI3 | Homo sapiens | P19429 | 12840750 | |
|
Intra
|
TNNC1 | P63316 | TNNI2 | Homo sapiens | P48788 | 24333682 |
Recombinant TNNC1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P71372 | Troponin C/TNNC1 Protein, Human (His, solution) | P63316 (M1-E161) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P71372A | Troponin C/TNNC1 Protein, Human (N-His) | P63316 (M1-E161) | ≥ 90%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
|
| Cardiomyopathy, Dilated, 1z |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Familial Isolated Dilated Cardiomyopathy |
|
|
| Cardiomyopathy, Dilated, 1e |
|
|
| Cardiomyopathy, Dilated, 1ee |
|
|
| Restrictive Cardiomyopathy |
|
|
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
|
| Hemochromatosis, Type 2b |
|
|
| Dilated Cardiomyopathy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | TNNC1 | VGNC | VGNC:78602 |
| Canis familiaris | TNNC1 | VGNC | VGNC:47686 |
| Bos taurus | TNNC1 | VGNC | VGNC:36189 |
| Mus musculus | TNNC1 | MGD | MGI:98779 |
| Felis catus | TNNC1 | VGNC | VGNC:66425 |
| Rattus norvegicus | TNNC1 | RGD | RGD:1309921 |
| Others | TNNC1 | NCBI |