Telethonin

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Titin-cap
Protein TCAP PDB 1ya5.png
PDB rendering based on 1ya5.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols TCAP ; CMD1N; LGMD2G; T-cap; TELE; telethonin
External IDs OMIM604488 MGI1330233 HomoloGene2724 GeneCards: TCAP Gene
RNA expression pattern
PBB GE TCAP 205766 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8557 21393
Ensembl ENSG00000173991 ENSMUSG00000007877
UniProt O15273 O70548
RefSeq (mRNA) NM_003673 NM_011540
RefSeq (protein) NP_003664 NP_035670
Location (UCSC) Chr 17:
37.82 – 37.82 Mb
Chr 11:
98.38 – 98.38 Mb
PubMed search [1] [2]

Telethonin is a protein that in humans is encoded by the TCAP gene.[1][2][3]

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. This gene encodes a protein 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.[3]

Interactions[edit]

Telethonin has been shown to interact with Titin,[2][4][5][6] MYOZ1[7][8] and ANKRD2.[9]

References[edit]

  1. ^ Valle G, Faulkner G, De Antoni A, Pacchioni B, Pallavicini A, Pandolfo D, Tiso N, Toppo S, Trevisan S, Lanfranchi G (November 1997). "Telethonin, a novel sarcomeric protein of heart and skeletal muscle". FEBS Lett 415 (2): 163–8. doi:10.1016/S0014-5793(97)01108-3. PMID 9350988. 
  2. ^ a b Gregorio CC, Trombitas K, Centner T, Kolmerer B, Stier G, Kunke K, Suzuki K, Obermayr F, Herrmann B, Granzier H, Sorimachi H, Labeit S (December 1998). "The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity". J Cell Biol 143 (4): 1013–27. doi:10.1083/jcb.143.4.1013. PMC 2132961. PMID 9817758. 
  3. ^ a b "Entrez Gene: TCAP titin-cap (telethonin)". 
  4. ^ Mayans, O; van der Ven P F, Wilm M, Mues A, Young P, Fürst D O, Wilmanns M, Gautel M (October 1998). "Structural basis for activation of the titin kinase domain during myofibrillogenesis". Nature (ENGLAND) 395 (6705): 863–9. doi:10.1038/27603. ISSN 0028-0836. PMID 9804419. 
  5. ^ Zou, Peijian; Gautel Mathias; Geerlof Arie; Wilmanns Matthias; Koch Michel H J; Svergun Dmitri I (January 2003). "Solution scattering suggests cross-linking function of telethonin in the complex with titin". J. Biol. Chem. (United States) 278 (4): 2636–44. doi:10.1074/jbc.M210217200. ISSN 0021-9258. PMID 12446666. 
  6. ^ Mues, A; van der Ven P F, Young P, Fürst D O, Gautel M (May 1998). "Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin". FEBS Lett. (NETHERLANDS) 428 (1-2): 111–4. doi:10.1016/S0014-5793(98)00501-8. ISSN 0014-5793. PMID 9645487. 
  7. ^ Frey, Norbert; Olson Eric N (April 2002). "Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins". J. Biol. Chem. (United States) 277 (16): 13998–4004. doi:10.1074/jbc.M200712200. ISSN 0021-9258. PMID 11842093. 
  8. ^ Faulkner, G; Pallavicini A, Comelli A, Salamon M, Bortoletto G, Ievolella C, Trevisan S, Kojic' S, Dalla Vecchia F, Laveder P, Valle G, Lanfranchi G (December 2000). "FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle". J. Biol. Chem. (UNITED STATES) 275 (52): 41234–42. doi:10.1074/jbc.M007493200. ISSN 0021-9258. PMID 10984498. 
  9. ^ Kojic, Snezana; Medeot Elisa; Guccione Ernesto; Krmac Helena; Zara Ivano; Martinelli Valentina; Valle Giorgio; Faulkner Georgine (May 2004). "The Ankrd2 protein, a link between the sarcomere and the nucleus in skeletal muscle". J. Mol. Biol. (England) 339 (2): 313–25. doi:10.1016/j.jmb.2004.03.071. ISSN 0022-2836. PMID 15136035. 

Further reading[edit]

External links[edit]