Tuberine
| Tuberine | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 1807 amino acids | |
| Secondary to quaternary structure | Heterodimer with hamartin | |
| Isoforms | 6th | |
| Identifier | ||
| Gene name | TSC2 | |
| External IDs | ||
| Occurrence | ||
| Parent taxon | Mammals | |
Tuberin ( TSC2 ) is a protein in mammalian cells that acts as a tumor suppressor . For this function, the formation of is Hamartin -Tuberin complex necessary that can be disturbed by various defects in humans, for example, by mutation of TSC2 - gene . Inability to form the complex is the cause of tuberous sclerosis , a hereditary disease .
Tuberin contains the RAP-GAP domain, which is responsible for the activation of the GTPases RHEB, RAP1A and RAB5 by the TSC complex.
literature
- J. Huang, BD Manning: A complex interplay between Akt, TSC2 and the two mTOR complexes . In: Biochem. Soc. Trans. Band 37 , Pt 1, February 2009, p. 217–222 , doi : 10.1042 / BST0370217 , PMID 19143635 , PMC 2778026 (free full text).
- M. Rosner, H. Dolznig, C. Fuchs, N. Siegel, A. Valli, M. Hengstschläger: CDKs as therapeutic targets for the human genetic disease tuberous sclerosis? In: Eur. J. Clin. Invest. tape 39 , no. December 12 , 2009, pp. 1033-1035 , doi : 10.1111 / j.1365-2362.2009.02213.x , PMID 19744185 .
- L. Mahimainathan, N. Ghosh-Choudhury, B. Venkatesan et al .: TSC2 deficiency increases PTEN via HIF1alpha . In: J. Biol. Chem. Volume 284 , no. 41 , October 2009, p. 27790–27798 , doi : 10.1074 / jbc.M109.028860 , PMID 19648120 , PMC 2788829 (free full text).
Individual evidence
- ↑ Swiss Institute of Bioinformatics (SIB): PROSITE documentation PDOC50085. Retrieved September 20, 2011 .
- ↑ UniProt P49815
Web links
- P. Katajisto, T. Makela, J. Wu: Phosphorylated AMPK phosphorylates TSC2. In: reactome.org. EBI, November 19, 2008, accessed October 27, 2010 .
- P. Katajisto, T. Makela, J. Wu: TSC2 activates intrinsic GTPase activity of Rheb. In: reactome.org. EBI, November 19, 2008, accessed October 27, 2010 .
- Inhibition of TSC complex formation by PKB. In: reactome.org. EBI, accessed October 27, 2010 .