TCAP (gene)

From Wikipedia, the free encyclopedia

Titin-cap (telethonin)

PDB rendering based on 1ya5.

Available structures: 1ya5, 2f8v

Identifiers

Symbol(s)

TCAP; CMD1N; LGMD2G; T-cap; TELE; telethonin

External IDs

OMIM: 604488 MGI: 1330233 HomoloGene: 2724

Gene ontology
Molecular Function:	• protein binding • structural constituent of muscle
Cellular Component:	• cytoplasm
Biological Process:	• protein complex assembly

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_003673 (mRNA)
NP_003664 (protein)

NM_011540 (mRNA)
NP_035670 (protein)

Location

Chr 17: 35.07 - 35.08 Mb

Chr 11: 98.2 - 98.2 Mb

Pubmed search

[1]

[2]

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]

[edit] References

^ ^a ^b Entrez Gene: TCAP titin-cap (telethonin).

[edit] 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.
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.