Structural highlights
Disease
SZT2_HUMAN Non-specific early-onset epileptic encephalopathy. The disease is caused by variants affecting the gene represented in this entry.
Function
SZT2_HUMAN As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose (PubMed:28199306, PubMed:28199315). May play a role in the cellular response to oxidative stress (By similarity).[UniProtKB:A2A9C3][1] [2]
References
- ↑ Wolfson RL, Chantranupong L, Wyant GA, Gu X, Orozco JM, Shen K, Condon KJ, Petri S, Kedir J, Scaria SM, Abu-Remaileh M, Frankel WN, Sabatini DM. KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1. Nature. 2017 Mar 16;543(7645):438-442. PMID:28199306 doi:10.1038/nature21423
- ↑ Peng M, Yin N, Li MO. SZT2 dictates GATOR control of mTORC1 signalling. Nature. 2017 Mar 16;543(7645):433-437. PMID:28199315 doi:10.1038/nature21378
