- TCAP (gene)
Titin-cap (telethonin), also known as TCAP, is a human
gene .cite web | title = Entrez Gene: TCAP titin-cap (telethonin)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8557| accessdate = ]PBB_Summary
section_title =
summary_text = 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 withlimb-girdle muscular dystrophy type 2G.cite web | title = Entrez Gene: TCAP titin-cap (telethonin)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8557| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Faulkner G, Lanfranchi G, Valle G |title=Telethonin and other new proteins of the Z-disc of skeletal muscle. |journal=IUBMB Life |volume=51 |issue= 5 |pages= 275–82 |year= 2002 |pmid= 11699871 |doi=
*cite journal | author=Moreira ES, Vainzof M, Marie SK, "et al." |title=The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. |journal=Am. J. Hum. Genet. |volume=61 |issue= 1 |pages= 151–9 |year= 1997 |pmid= 9245996 |doi=
*cite journal | author=Valle G, Faulkner G, De Antoni A, "et al." |title=Telethonin, a novel sarcomeric protein of heart and skeletal muscle. |journal=FEBS Lett. |volume=415 |issue= 2 |pages= 163–8 |year= 1997 |pmid= 9350988 |doi=
*cite journal | author=Mues A, van der Ven PF, Young P, "et al." |title=Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin. |journal=FEBS Lett. |volume=428 |issue= 1-2 |pages= 111–4 |year= 1998 |pmid= 9645487 |doi=
*cite journal | author=Mayans O, van der Ven PF, Wilm M, "et al." |title=Structural basis for activation of the titin kinase domain during myofibrillogenesis. |journal=Nature |volume=395 |issue= 6705 |pages= 863–9 |year= 1998 |pmid= 9804419 |doi= 10.1038/27603
*cite journal | author=Gregorio CC, Trombitás K, Centner T, "et al." |title=The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity. |journal=J. Cell Biol. |volume=143 |issue= 4 |pages= 1013–27 |year= 1998 |pmid= 9817758 |doi=
*cite journal | author=Moreira ES, Wiltshire TJ, Faulkner G, "et al." |title=Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. |journal=Nat. Genet. |volume=24 |issue= 2 |pages= 163–6 |year= 2000 |pmid= 10655062 |doi= 10.1038/72822
*cite journal | author=Faulkner G, Pallavicini A, Comelli A, "et al." |title=FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle. |journal=J. Biol. Chem. |volume=275 |issue= 52 |pages= 41234–42 |year= 2001 |pmid= 10984498 |doi= 10.1074/jbc.M007493200
*cite journal | author=Schröder R, Reimann J, Iakovenko A, "et al." |title=Early and selective disappearance of telethonin protein from the sarcomere in neurogenic atrophy. |journal=J. Muscle Res. Cell. Motil. |volume=22 |issue= 3 |pages= 259–64 |year= 2002 |pmid= 11763198 |doi=
*cite journal | author=Frey N, Olson EN |title=Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. |journal=J. Biol. Chem. |volume=277 |issue= 16 |pages= 13998–4004 |year= 2002 |pmid= 11842093 |doi= 10.1074/jbc.M200712200
*cite journal | author=Nicholas G, Thomas M, Langley B, "et al." |title=Titin-cap associates with, and regulates secretion of, Myostatin. |journal=J. Cell. Physiol. |volume=193 |issue= 1 |pages= 120–31 |year= 2002 |pmid= 12209887 |doi= 10.1002/jcp.10158
*cite journal | author=Zou P, Gautel M, Geerlof A, "et al." |title=Solution scattering suggests cross-linking function of telethonin in the complex with titin. |journal=J. Biol. Chem. |volume=278 |issue= 4 |pages= 2636–44 |year= 2003 |pmid= 12446666 |doi= 10.1074/jbc.M210217200
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Knöll R, Hoshijima M, Hoffman HM, "et al." |title=The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. |journal=Cell |volume=111 |issue= 7 |pages= 943–55 |year= 2003 |pmid= 12507422 |doi=
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Katoh M, Katoh M |title=Evolutionary recombination hotspot around GSDML-GSDM locus is closely linked to the oncogenomic recombination hotspot around the PPP1R1B-ERBB2-GRB7 amplicon. |journal=Int. J. Oncol. |volume=24 |issue= 4 |pages= 757–63 |year= 2004 |pmid= 15010812 |doi=
*cite journal | author=Kojic S, Medeot E, Guccione E, "et al." |title=The Ankrd2 protein, a link between the sarcomere and the nucleus in skeletal muscle. |journal=J. Mol. Biol. |volume=339 |issue= 2 |pages= 313–25 |year= 2004 |pmid= 15136035 |doi= 10.1016/j.jmb.2004.03.071
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Hayashi T, Arimura T, Itoh-Satoh M, "et al." |title=Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. |journal=J. Am. Coll. Cardiol. |volume=44 |issue= 11 |pages= 2192–201 |year= 2004 |pmid= 15582318 |doi= 10.1016/j.jacc.2004.08.058PBB_Controls
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