Telethonin

TCAP

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
1YA5, 2F8V

Identifiers

TCAP, CMD1N, LGMD2G, T-cap, TELE, telethonin, CMH25, titin-cap

External IDs

Gene ontology
Molecular function	• protein binding, bridging • ion channel binding • titin Z domain binding • titin binding • BMP binding • protein binding • FATZ binding • structural constituent of muscle
Cellular component	• cytoplasm • cytosol • I band • sarcomere • Z disc
Biological process	• somitogenesis • response to muscle stretch • sarcomerogenesis • cardiac muscle contraction • protein complex assembly • adult heart development • otic vesicle formation • skeletal muscle contraction • cardiac muscle hypertrophy • cardiac muscle tissue morphogenesis • skeletal muscle thin filament assembly • detection of muscle stretch • cardiac muscle fiber development • cardiac myofibril assembly • cardiac muscle hypertrophy in response to stress • detection of mechanical stimulus • muscle filament sliding • sarcomere organization • skeletal muscle myosin thick filament assembly
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


8557


21393


ENSG00000173991


ENSMUSG00000007877


O15273


O70548

RefSeq (mRNA)


NM_003673


NM_011540

RefSeq (protein)


NP_003664 NP_003664.1


NP_035670.2 NP_035670

Location (UCSC)

PubMed search

Telethonin, also known as Tcap, is a protein that in humans is encoded by the TCAP gene. Telethonin is expressed in cardiac and skeletal muscle at Z-discs and functions to regulate sarcomere assembly, T-tubule function and apoptosis. Telethonin has been implicated in several diseases, including limb-girdle muscular dystrophy, hypertrophic cardiomyopathy, dilated cardiomyopathy and idiopathic cardiomyopathy.