Telethonin

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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]

Function[edit]

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:

References[edit]

  1. ^ Valle G, Faulkner G, De Antoni A, Pacchioni B, Pallavicini A, Pandolfo D et al. (Sep 1997). "Telethonin, a novel sarcomeric protein of heart and skeletal muscle". FEBS Letters 415 (2): 163–8. doi:10.1016/S0014-5793(97)01108-3. PMID 9350988. 
  2. ^ a b Gregorio CC, Trombitás K, Centner T, Kolmerer B, Stier G, Kunke K et al. (Nov 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". The Journal of Cell Biology 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. ^ Kojic S, Medeot E, Guccione E, Krmac H, Zara I, Martinelli V et al. (May 2004). "The Ankrd2 protein, a link between the sarcomere and the nucleus in skeletal muscle". Journal of Molecular Biology 339 (2): 313–25. doi:10.1016/j.jmb.2004.03.071. PMID 15136035. 
  5. ^ Frey N, Olson EN (Apr 2002). "Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins". The Journal of Biological Chemistry 277 (16): 13998–4004. doi:10.1074/jbc.M200712200. PMID 11842093. 
  6. ^ Faulkner G, Pallavicini A, Comelli A, Salamon M, Bortoletto G, Ievolella C et al. (Dec 2000). "FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle". The Journal of Biological Chemistry 275 (52): 41234–42. doi:10.1074/jbc.M007493200. PMID 10984498. 
  7. ^ Mayans O, van der Ven PF, Wilm M, Mues A, Young P, Fürst DO et al. (Oct 1998). "Structural basis for activation of the titin kinase domain during myofibrillogenesis". Nature 395 (6705): 863–9. doi:10.1038/27603. PMID 9804419. 
  8. ^ Zou P, Gautel M, Geerlof A, Wilmanns M, Koch MH, Svergun DI (Jan 2003). "Solution scattering suggests cross-linking function of telethonin in the complex with titin". The Journal of Biological Chemistry 278 (4): 2636–44. doi:10.1074/jbc.M210217200. PMID 12446666. 
  9. ^ Mues A, van der Ven PF, Young P, Fürst DO, Gautel M (May 1998). "Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin". FEBS Letters 428 (1-2): 111–4. doi:10.1016/s0014-5793(98)00501-8. PMID 9645487. 

Further reading[edit]

  • Faulkner G, Lanfranchi G, Valle G (May 2001). "Telethonin and other new proteins of the Z-disc of skeletal muscle". IUBMB Life 51 (5): 275–82. doi:10.1080/152165401317190761. PMID 11699871. 
  • Moreira ES, Vainzof M, Marie SK, Sertié AL, Zatz M, Passos-Bueno MR (Jul 1997). "The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12". American Journal of Human Genetics 61 (1): 151–9. doi:10.1086/513889. PMC 1715843. PMID 9245996. 
  • Mues A, van der Ven PF, Young P, Fürst DO, Gautel M (May 1998). "Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin". FEBS Letters 428 (1-2): 111–4. doi:10.1016/S0014-5793(98)00501-8. PMID 9645487. 
  • Mayans O, van der Ven PF, Wilm M, Mues A, Young P, Fürst DO et al. (Oct 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, Nilforoushan A, Vainzof M, Suzuki OT et al. (Feb 2000). "Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin". Nature Genetics 24 (2): 163–6. doi:10.1038/72822. PMID 10655062. 
  • Faulkner G, Pallavicini A, Comelli A, Salamon M, Bortoletto G, Ievolella C et al. (Dec 2000). "FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle". The Journal of Biological Chemistry 275 (52): 41234–42. doi:10.1074/jbc.M007493200. PMID 10984498. 
  • Schröder R, Reimann J, Iakovenko A, Mues A, Bönnemann CG, Matten J et al. (2002). "Early and selective disappearance of telethonin protein from the sarcomere in neurogenic atrophy". Journal of Muscle Research and Cell Motility 22 (3): 259–64. doi:10.1023/A:1012242011109. PMID 11763198. 
  • Frey N, Olson EN (Apr 2002). "Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins". The Journal of Biological Chemistry 277 (16): 13998–4004. doi:10.1074/jbc.M200712200. PMID 11842093. 
  • Nicholas G, Thomas M, Langley B, Somers W, Patel K, Kemp CF et al. (Oct 2002). "Titin-cap associates with, and regulates secretion of, Myostatin". Journal of Cellular Physiology 193 (1): 120–31. doi:10.1002/jcp.10158. PMID 12209887. 
  • Zou P, Gautel M, Geerlof A, Wilmanns M, Koch MH, Svergun DI (Jan 2003). "Solution scattering suggests cross-linking function of telethonin in the complex with titin". The Journal of Biological Chemistry 278 (4): 2636–44. doi:10.1074/jbc.M210217200. PMID 12446666. 
  • Knöll R, Hoshijima M, Hoffman HM, Person V, Lorenzen-Schmidt I, Bang ML et al. (Dec 2002). "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. doi:10.1016/S0092-8674(02)01226-6. PMID 12507422. 
  • Katoh M, Katoh M (Apr 2004). "Evolutionary recombination hotspot around GSDML-GSDM locus is closely linked to the oncogenomic recombination hotspot around the PPP1R1B-ERBB2-GRB7 amplicon". International Journal of Oncology 24 (4): 757–63. doi:10.3892/ijo.24.4.757. PMID 15010812. 
  • Kojic S, Medeot E, Guccione E, Krmac H, Zara I, Martinelli V et al. (May 2004). "The Ankrd2 protein, a link between the sarcomere and the nucleus in skeletal muscle". Journal of Molecular Biology 339 (2): 313–25. doi:10.1016/j.jmb.2004.03.071. PMID 15136035. 
  • Hayashi T, Arimura T, Itoh-Satoh M, Ueda K, Hohda S, Inagaki N et al. (Dec 2004). "Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy". Journal of the American College of Cardiology 44 (11): 2192–201. doi:10.1016/j.jacc.2004.08.058. PMID 15582318. 

External links[edit]