SMART: Pfam domain Telethonin

The domain within your query sequence starts at position 3 and ends at position 167; the E-value for the Telethonin domain shown below is 7.7e-77.

TSELSCQVSEENQERREAFWAEWKDLTLSTRPEEGCSLHEEDTQRHETYHRQGQCQAVVQ
RSPWLVMRLGILGRGLQEYQLPYQRVLPLPIFTPTKVGASKEEREETPIQLRELLALETA
LGGQCVERQDVAEITKQLPPVVPVSKPGPLRRTLSRSMSQEAQRG

Telethonin

PFAM accession number:	PF09470
Interpro abstract (IPR015667):	Telethonin is found at the Z-disc of sarcomeres. It is the phosphorylation target of the kinase domain of titin, and is thought to play a role in muscle development [ (PUBMED:9804419) (PUBMED:10481174) ]. Deletion of the C terminus of titin, including the kinase domain, has been found to impair myofibrillogenesis [ (PUBMED:14600266) ]. Mutations of telethonin cause limb-girdle muscular dystrophy type 2G [ (PUBMED:12379311) ]. Telethonin is a 167-residue protein which complexes with the large muscle protein, titin. The very N terminus of titin, composed of two immunoglobulin-like (Ig) domains, referred to as Z1 and Z2, interacts with the N-terminal region (residues 1-53) of telethonin, mediating the antiparallel assembly of two Z1Z2 domains. The C terminus of telethonin appears to induce dimerisation of this 2:1 titin/telethonin structure which thus forms a complex necessary for myofibril assembly and maintenance of the intact Z-disk of skeletal and cardiac muscles [ (PUBMED:16713295) ].

PFAM accession number:

PF09470

Interpro abstract (IPR015667):

Telethonin is found at the Z-disc of sarcomeres. It is the phosphorylation target of the kinase domain of titin, and is thought to play a role in muscle development [ (PUBMED:9804419) (PUBMED:10481174) ]. Deletion of the C terminus of titin, including the kinase domain, has been found to impair myofibrillogenesis [ (PUBMED:14600266) ]. Mutations of telethonin cause limb-girdle muscular dystrophy type 2G [ (PUBMED:12379311) ].

Telethonin is a 167-residue protein which complexes with the large muscle protein, titin. The very N terminus of titin, composed of two immunoglobulin-like (Ig) domains, referred to as Z1 and Z2, interacts with the N-terminal region (residues 1-53) of telethonin, mediating the antiparallel assembly of two Z1Z2 domains. The C terminus of telethonin appears to induce dimerisation of this 2:1 titin/telethonin structure which thus forms a complex necessary for myofibril assembly and maintenance of the intact Z-disk of skeletal and cardiac muscles [ (PUBMED:16713295) ].

This is a PFAM domain. For full annotation and more information, please see the PFAM entry Telethonin