User:Peyton Jenkins/Sandbox 1
From Proteopedia
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This structure is missing important residues both on STK11 and STRADα. In STRADα, the last portion of the pseudokinase domain is also missing, aside from the WEF motif. This region is important for MO25 binding. From STK11, both the N-terminal domain and C-terminal domain are almost entirely missing. Despite not being essential for catalytic activity, these domains have important kinase-independent function. The N-terminal domain has been shown to negatively regulate [[FAK]], and loss of FAK regulation leads to altered cell motility. The C-terminal domain has been shown to be important for development in ''Drosophila'' through interactions with phosphatidic acid along the plasma membrane, and also contains a farnesylation site to aid in intracellular localization. The C-terminal domain has also been shown to regulate [[RhoA]] and [[cdc42]] and affect the phenotype of invasion in a 3D cell culture model. | This structure is missing important residues both on STK11 and STRADα. In STRADα, the last portion of the pseudokinase domain is also missing, aside from the WEF motif. This region is important for MO25 binding. From STK11, both the N-terminal domain and C-terminal domain are almost entirely missing. Despite not being essential for catalytic activity, these domains have important kinase-independent function. The N-terminal domain has been shown to negatively regulate [[FAK]], and loss of FAK regulation leads to altered cell motility. The C-terminal domain has been shown to be important for development in ''Drosophila'' through interactions with phosphatidic acid along the plasma membrane, and also contains a farnesylation site to aid in intracellular localization. The C-terminal domain has also been shown to regulate [[RhoA]] and [[cdc42]] and affect the phenotype of invasion in a 3D cell culture model. | ||
| - | ==Pathogenic Mutations== | ||
| - | When a patient presents with a mutation to STK11, the gold standard for determining if this mutation is pathogenic is to compare it to a list of known Peutz-Jegher mutants, as this condition is known to be caused by loss of function in STK11. If a mutation is not present in Peutz-Jegher Syndrome, it is referred to as a "variant of unknown significance", and further testing must be done in order to classify these mutants as either pathogenic, or benign. The first step in this is to determine if the mutant retains kinase activity | ||
== References == | == References == | ||
<references/> | <references/> | ||
Revision as of 18:01, 30 April 2025
2WTK: Heterotrimeric Complex of STK11, MO25, and STRADα
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