WormBase Tree Display for Disease_model_annotation: WBDOannot00001276
expand all nodes | collapse all nodes | view schema
| WBDOannot00001276 | Disease_term | DOID:4467 | |
|---|---|---|---|
| Disease_of_species | Homo sapiens | ||
| Modeled_by | Variation | WBVar00091484 | |
| Asserted_gene | WBGene00006922 | ||
| Association_type | is_implicated_in | ||
| Evidence_code | GO_code | IMP | |
| ECO_term | ECO:0007013 | ||
| Genetic_sex | hermaphrodite | ||
| Paper_evidence | WBPaper00061713 | ||
| Disease_model_description | Inactivation of the tumor suppressor von HippelLindau (VHL) gene is a key event in hereditary and sporadic clear cell renal cell carcinomas (ccRCC); hyperactivation of mTOR signaling is a common finding in VHL-dependent ccRCC. Inactivation of vhl-1/VHL in worms enhanced the phosphorylation level of p70 S6K compared to wild type consistent with hyperactivation of mTORC1 in vhl-1 mutants. Further, studies in worms show that VHL-mediated ubiquitinylation and degradation of lin-15/RAPTOR may result in impaired mTORC1 activity. | ||
| Curator_confirmed | WBPerson324 | ||
| Date_last_updated | 28 Jun 2022 00:00:00 |
