Group:MUZIC:Telethonin
From Proteopedia
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It is encoded by Tcap gene, in mice (Mus musculus) and humans (Homo sapiens). | 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). | 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/> | + | 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/> |
At the transcriptional level it is thought that there is only one isoform ot Tcap, and it is one of the most abundant transcripts in skeletal muscle <ref> PMID: 9350988 <ref/>. It does not have different levels of expression in different type of skeletal muscle; levels of expression of Tcap are lower in neonatal compared to adult striated muscle. The transcript is accumulated in a linear pattern similar to that of the myosin heavy chain <ref> PMID:10208846 <ref/>. In these same studies it was reported that dennervation lead to decrease in expression of Tcap, suggesting that locomotor activity is also a regulator for its maintainance. | At the transcriptional level it is thought that there is only one isoform ot Tcap, and it is one of the most abundant transcripts in skeletal muscle <ref> PMID: 9350988 <ref/>. It does not have different levels of expression in different type of skeletal muscle; levels of expression of Tcap are lower in neonatal compared to adult striated muscle. The transcript is accumulated in a linear pattern similar to that of the myosin heavy chain <ref> PMID:10208846 <ref/>. In these same studies it was reported that dennervation lead to decrease in expression of Tcap, suggesting that locomotor activity is also a regulator for its maintainance. | ||
Revision as of 16:06, 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]
