a protein that is expressed in most tissues and that has no significant homology to other proteins. Involved in nutrient sensing through the AMPK and mTOR signaling pathways. Regulates lysosome function by promoting the mTORC1-dependent sequestration of transcription factor EB (TFEB). Required for the recruitment of mTORC1 to lysosomes by Rag GTPases. Amino acid depletion leads to its recruitment to the surface of lysosomes where it directly binds RagA, an interaction that is promoted by FNIP1. May be a tumor suppressor. Loss of function mutations cause Birt-Hogg-Dube syndrome (BHD), a disease characterized by fibrofolliculomas (hair follicle tumors), and predispositions for renal carcinoma, pneumothorax, and pulmonary cysts. These symptoms are similar to those that occur in TSC or tuberous sclerosis complex, suggesting the involvement in the same pathways as TSC1. Belongs to the folliculin family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Cellular Component: cytoplasm; midbody; nucleus
Molecular Function: protein binding; protein complex binding
Biological Process: intercellular junction assembly; negative regulation of TOR signaling pathway; regulation of protein amino acid phosphorylation; negative regulation of protein kinase B signaling cascade; TOR signaling pathway; positive regulation of cell adhesion; in utero embryonic development; positive regulation of apoptosis; positive regulation of transforming growth factor beta receptor signaling pathway; regulation of histone acetylation; negative regulation of transcription from RNA polymerase II promoter; regulation of cytokinesis; regulation of TOR signaling pathway; negative regulation of Rho protein signal transduction; positive regulation of transcription from RNA polymerase II promoter; hemopoiesis; positive regulation of protein amino acid phosphorylation; negative regulation of cell growth; negative regulation of cell migration; positive regulation of TOR signaling pathway
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.