Group:MUZIC:Telethonin
From Proteopedia
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== Introduction == | == Introduction == | ||
| + | Also known as T-Cap or Titin Cap protein. | ||
| - | + | It is a small protein of 19kDa, 167 amino acids. Predominantly expressed in striated muscle. It is a structural protein of the muscle; it is associated to the Z-disc in the sarcomere. It acts as link between titin and other proteins implicated in muscle structure and signalling. | |
| + | Genetic overview | ||
| - | It | + | It is encoded by Tcap gene, in mice (Mus musculus) and humans (Homo sapiens). |
| + | In mice it is located in chromosome 11, in humans in the long arm of chromosome 17. Tcap is encoded by two exons, and has non-conserved intragenic sequences. The gene is flanked by Stard3 upstream separated by 2,8kb, and Pnmt1 downstream separated by 1,7kb. It has three conserved E-box elements at -103bp (E1), -272bp (E2), and -2067bp (E3). | ||
| + | For the full activation of the gene the regulation of E1 is highly important. MyoD plays an important role in this regulation, and from myogenin in late differentiation of myoblasts. <ref> PMID: 21305318 <ref/> | ||
| - | == Genomics == | ||
| - | It is encoeded by TCAP gene, localized in chromosome ... | ||
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| - | Mutations in this gene... | ||
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| - | == Transcriptomics == | ||
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| - | transcriptional regulators | ||
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| - | == Proteomics == | ||
| - | It is expressed in... | ||
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| - | Isoforms | ||
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| - | Domains | ||
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| - | == Protein interactions == | ||
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| - | It interacts with Titin, Alpha-Actinin, FATZ. | ||
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| - | == Protein Function == | ||
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| - | It has a role in muscle support. | ||
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| - | == Associated illness == | ||
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| - | Mutations in this protein have been associated with Limb Gridle Muscular Distrophy type 2G. | ||
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| - | Symptoms | ||
Revision as of 15:54, 1 July 2011
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Introduction
Also known as T-Cap or Titin Cap protein.
It is a small protein of 19kDa, 167 amino acids. Predominantly expressed in striated muscle. It is a structural protein of the muscle; it is associated to the Z-disc in the sarcomere. It acts as link between titin and other proteins implicated in muscle structure and signalling.
Genetic overview
It is encoded by Tcap gene, in mice (Mus musculus) and humans (Homo sapiens). In mice it is located in chromosome 11, in humans in the long arm of chromosome 17. Tcap is encoded by two exons, and has non-conserved intragenic sequences. The gene is flanked by Stard3 upstream separated by 2,8kb, and Pnmt1 downstream separated by 1,7kb. It has three conserved E-box elements at -103bp (E1), -272bp (E2), and -2067bp (E3). For the full activation of the gene the regulation of E1 is highly important. MyoD plays an important role in this regulation, and from myogenin in late differentiation of myoblasts. [1]
