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Titin-cap (telethonin)

PDB rendering based on 1ya5.
Available structures
1ya5, 2f8v
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 O70549
RefSeq (mRNA) NM_003673 NM_011540
RefSeq (protein) NP_003664 NP_035670
Location (UCSC) Chr 17:
35.07 - 35.08 Mb
Chr 11:
98.2 - 98.2 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

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

References

  1. ^ Valle G, Faulkner G, De Antoni A, Pacchioni B, Pallavicini A, Pandolfo D, Tiso N, Toppo S, Trevisan S, Lanfranchi G (Nov 1997). "Telethonin, a novel sarcomeric protein of heart and skeletal muscle". FEBS Lett 415 (2): 163–8. 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 (Dec 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. PMID 9817758.  
  3. ^ a b "Entrez Gene: TCAP titin-cap (telethonin)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8557.  
  4. ^ Mayans, O; van der Ven P F, Wilm M, Mues A, Young P, Fürst D O, Wilmanns M, Gautel M (Oct. 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 9804415.  
  5. ^ Zou, Peijian; Gautel Mathias, Geerlof Arie, Wilmanns Matthias, Koch Michel H J, Svergun Dmitri I (Jan. 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. ISSN 0014-5793. PMID 9645487.  
  7. ^ Frey, Norbert; Olson Eric N (Apr. 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 (Dec. 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

  • Faulkner G, Lanfranchi G, Valle G (2002). "Telethonin and other new proteins of the Z-disc of skeletal muscle.". IUBMB Life 51 (5): 275–82. PMID 11699871.  
  • Moreira ES, Vainzof M, Marie SK, et al. (1997). "The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12.". Am. J. Hum. Genet. 61 (1): 151–9. PMID 9245996.  
  • Mues A, van der Ven PF, Young P, et al. (1998). "Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin.". FEBS Lett. 428 (1-2): 111–4. PMID 9645487.  
  • Mayans O, van der Ven PF, Wilm M, et al. (1998). "Structural basis for activation of the titin kinase domain during myofibrillogenesis.". Nature 395 (6705): 863–9. doi:10.1038/27603. PMID 9804419.  
  • Moreira ES, Wiltshire TJ, Faulkner G, et al. (2000). "Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.". Nat. Genet. 24 (2): 163–6. doi:10.1038/72822. PMID 10655062.  
  • Faulkner G, Pallavicini A, Comelli A, et al. (2001). "FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle.". J. Biol. Chem. 275 (52): 41234–42. doi:10.1074/jbc.M007493200. PMID 10984498.  
  • Schröder R, Reimann J, Iakovenko A, et al. (2002). "Early and selective disappearance of telethonin protein from the sarcomere in neurogenic atrophy.". J. Muscle Res. Cell. Motil. 22 (3): 259–64. PMID 11763198.  
  • Frey N, Olson EN (2002). "Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins.". J. Biol. Chem. 277 (16): 13998–4004. doi:10.1074/jbc.M200712200. PMID 11842093.  
  • Nicholas G, Thomas M, Langley B, et al. (2002). "Titin-cap associates with, and regulates secretion of, Myostatin.". J. Cell. Physiol. 193 (1): 120–31. doi:10.1002/jcp.10158. PMID 12209887.  
  • Zou P, Gautel M, Geerlof A, et al. (2003). "Solution scattering suggests cross-linking function of telethonin in the complex with titin.". J. Biol. Chem. 278 (4): 2636–44. doi:10.1074/jbc.M210217200. PMID 12446666.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Knöll R, Hoshijima M, Hoffman HM, et al. (2003). "The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy.". Cell 111 (7): 943–55. PMID 12507422.  
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.  
  • Katoh M, Katoh M (2004). "Evolutionary recombination hotspot around GSDML-GSDM locus is closely linked to the oncogenomic recombination hotspot around the PPP1R1B-ERBB2-GRB7 amplicon.". Int. J. Oncol. 24 (4): 757–63. PMID 15010812.  
  • Kojic S, Medeot E, Guccione E, et al. (2004). "The Ankrd2 protein, a link between the sarcomere and the nucleus in skeletal muscle.". J. Mol. Biol. 339 (2): 313–25. doi:10.1016/j.jmb.2004.03.071. PMID 15136035.  
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.  
  • Hayashi T, Arimura T, Itoh-Satoh M, et al. (2004). "Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.". J. Am. Coll. Cardiol. 44 (11): 2192–201. doi:10.1016/j.jacc.2004.08.058. PMID 15582318.  
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