TNNC1

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]

Description

Troponin C1, slow skeletal and cardiac type

Tissue specificity

Group enriched (heart muscle, skeletal muscle, tongue)

Subcell location

Nucleoplasm, Actin filaments, Mitochondria

Predicted location

Intracellular

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

3 (52451100 - 52454041)

Ensembl ID

ENSG00000114854  (ver. 103.38)

Orthologs

Mouse Tnnc1: ENSMUSG00000091898

UniProt

P63316

neXtProt

NX_P63316

Human splice variants
Mouse splice variants

Protein structure