Telethonin a muscle assembly regulating factor that interacts with the giant kinase titin. Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. Telethonin is found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. Note: This description may include information from UniProtKB.
Protein type: Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 17q12
Cellular Component:  cytosol; I band; Z disc
Molecular Function:  BMP binding; FATZ binding; ion channel binding; protein binding; protein binding, bridging; structural constituent of muscle; titin binding; titin Z domain binding
Biological Process:  adult heart development; cardiac muscle contraction; cardiac muscle fiber development; cardiac muscle hypertrophy; cardiac muscle hypertrophy in response to stress; cardiac muscle tissue morphogenesis; cardiac myofibril assembly; detection of mechanical stimulus; detection of muscle stretch; muscle filament sliding; otic vesicle formation; protein-containing complex assembly; response to muscle stretch; sarcomere organization; sarcomerogenesis; skeletal muscle contraction; skeletal muscle myosin thick filament assembly; skeletal muscle thin filament assembly; somitogenesis
Disease: Cardiomyopathy, Dilated, 1n; Muscular Dystrophy, Limb-girdle, Type 2g
Reference #:  O15273 (UniProtKB)
Alt. Names/Synonyms: 19 kDa sarcomeric protein; CMD1N; LGMD2G; limb girdle muscular dystrophy 2G (autosomal recessive); T-cap; TCAP; TELE; Telethonin; TELT; Titin cap protein; titin-cap (telethonin)
Gene Symbols: TCAP
Molecular weight: 19,052 Da
Basal Isoelectric point: 5.2  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho3D  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene