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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.
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| Protein type: Motility/polarity/chemotaxis |
| Chromosomal Location of Human Ortholog: 17q12 |
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Cellular Component:
cytosol; I band; Z disc
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Molecular Function:
BMP binding; FATZ binding; ion channel binding; protein binding; protein binding, bridging; structural constituent of muscle; titin binding; titin Z domain binding
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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
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Disease: Cardiomyopathy, Dilated, 1n; Muscular Dystrophy, Limb-girdle, Type 2g
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Reference #:
O15273
(UniProtKB)
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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)
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Gene Symbols: TCAP
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Molecular weight:
19,052 Da
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Basal Isoelectric point:
5.2
Predict pI for various phosphorylation states
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