Telethonin
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RefSeq (protein) | |||||||||
Location (UCSC) | Chr 17: 39.67 – 39.67 Mb | Chr 11: 98.27 – 98.28 Mb | |||||||
PubMed search | [3] | [4] |
View/Edit Human | View/Edit Mouse |
Telethonin, also known as Tcap, is a
Structure
Telethonin is a 19.0 kDa protein composed of 167 amino acids.[8] Telethonin has a unique β-sheet structure, which enables antiparallel association with the Titin Z1-Z2 domains in cardiac and skeletal muscle.[9] Structural analysis of full-length Telethonin with the N-terminal region of Titin indicate that the C-terminus of Telethonin is critical for the dimerization of two Telethonin/Titin complexes into a higher oligomeric structure.[10]
Function
Telethonin expression is developmentally regulated in both
Telethonin forms a complex with
Telethonin is a substrate of titin kinase,
The intracellular degradation of Telethonin is regulated by
Telethonin was also identified to be targeted and regulated by transcriptional activators
Clinical Significance
Mutations in this gene are associated with
Two mutations in Telethonin,
Interactions
Telethonin has been shown to
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000173991 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000007877 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- S2CID 1482856.
- ^ PMID 9817758.
- ^ "Entrez Gene: TCAP titin-cap (telethonin)".
- ^ "Protein Information for the human TCAP gene (Uniprot ID: O15273)". COPaKB: Cardiac Organellar Protein Atlas Knowledgebase. Retrieved 20 June 2015.
- S2CID 7509846.
- PMID 16713295.
- PMID 10208846.
- PMID 25125171.
- ^ S2CID 15082967.
- ^ PMID 11697903.
- ^ PMID 18408010.
- PMID 21799151.
- PMID 23100327.
- ^ S2CID 4426977.
- ^ PMID 24280220.
- PMID 15514163.
- PMID 16678796..
- PMID 18849585.
- PMID 25121604.
- PMID 12379311.
- S2CID 30898294.
- PMID 16352453.
- PMID 17097056.
- PMID 21483645.
- PMID 24037902.
- PMID 19412328.
- PMID 15582318.
- S2CID 1824336.
- S2CID 45084505.
- PMID 15136035.
- S2CID 45084505.
- PMID 16678796.
- S2CID 8866409.
- ^ PMID 11842093.
- PMID 10984498.
- PMID 15514163.
- PMID 18849585.
- PMID 12446666.
- S2CID 11786578.
Further reading
- 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. S2CID 23688131.
- 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. 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. S2CID 11786578.
- Mayans O, van der Ven PF, Wilm M, Mues A, Young P, Fürst DO, Wilmanns M, Gautel M (Oct 1998). "Structural basis for activation of the titin kinase domain during myofibrillogenesis". Nature. 395 (6705): 863–9. S2CID 4426977.
- Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE (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. S2CID 8698402.
- 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". The Journal of Biological Chemistry. 275 (52): 41234–42. PMID 10984498.
- Schröder R, Reimann J, Iakovenko A, Mues A, Bönnemann CG, Matten J, Gautel M (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. S2CID 22553971.
- 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. PMID 11842093.
- Nicholas G, Thomas M, Langley B, Somers W, Patel K, Kemp CF, Sharma M, Kambadur R (Oct 2002). "Titin-cap associates with, and regulates secretion of, Myostatin". Journal of Cellular Physiology. 193 (1): 120–31. S2CID 8866409.
- 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. PMID 12446666.
- Knöll R, Hoshijima M, Hoffman HM, Person V, Lorenzen-Schmidt I, Bang ML, Hayashi T, Shiga N, Yasukawa H, Schaper W, McKenna W, Yokoyama M, Schork NJ, Omens JH, McCulloch AD, Kimura A, Gregorio CC, Poller W, Schaper J, Schultheiss HP, Chien KR (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. S2CID 15082967.
- 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. PMID 15010812.
- Kojic S, Medeot E, Guccione E, Krmac H, Zara I, Martinelli V, Valle G, Faulkner G (May 2004). "The Ankrd2 protein, a link between the sarcomere and the nucleus in skeletal muscle". Journal of Molecular Biology. 339 (2): 313–25. PMID 15136035.
- Hayashi T, Arimura T, Itoh-Satoh M, Ueda K, Hohda S, Inagaki N, Takahashi M, Hori H, Yasunami M, Nishi H, Koga Y, Nakamura H, Matsuzaki M, Choi BY, Bae SW, You CW, Han KH, Park JE, Knöll R, Hoshijima M, Chien KR, Kimura A (Dec 2004). "Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy". Journal of the American College of Cardiology. 44 (11): 2192–201. PMID 15582318.