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TCAP (gene)

From Wikidoc - Reading time: 4 min


Titin-cap (telethonin)
File:PBB Protein TCAP image.jpg
PDB rendering based on 1ya5.
Available structures
PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB
Identifiers
Symbols TCAP ; CMD1N; LGMD2G; T-cap; TELE; telethonin
External IDs Template:OMIM5 Template:MGI HomoloGene: 2724
RNA expression pattern
File:PBB GE TCAP 205766 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Titin-cap (telethonin), also known as TCAP, is a human gene.[1]

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.[1]

References[edit | edit source]

  1. ↑ 1.0 1.1 "Entrez Gene: TCAP titin-cap (telethonin)".

Further reading[edit | edit source]

  • 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.
  • Valle G, Faulkner G, De Antoni A; et al. (1997). "Telethonin, a novel sarcomeric protein of heart and skeletal muscle". FEBS Lett. 415 (2): 163–8. PMID 9350988.
  • 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.
  • Gregorio CC, Trombitás K, Centner T; et al. (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.
  • 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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