Species Human Entrez 201163 | Human Mouse Ensembl ENSG00000154803 | |
Aliases FLCN, BHD, FLCL, Folliculin External IDs MGI: 2442184 HomoloGene: 14583 GeneCards: FLCN | ||
Folliculin also known as FLCN, BHD, FLCL, FLCN_HUMAN, MGC17998, or MGC23445 is a protein associated with Birt-Hogg-Dubé syndrome and hereditary spontaneous pneumothorax. It is encoded by the Folliculin gene sometimes also referred to as the BHD gene.
Contents
The function of the folliculin protein has yet to be determined but current research suggests it may act as a tumor suppressor. Tumor suppressors help control the growth and division of cells.
Structure
The FLCN gene consists of 14 exons.
Location
Cytogenetic Location: The FLCN gene is located on the short (p) arm of chromosome 17 at position 11.2. (17p11.2).
Molecular Location on chromosome 17: base pairs 17,056,250 to 17,081,220
Function
Using coimmunoprecipitation of FNIP1 and FLCN expressed in HEK293 cells and in vitro binding assays, the C-terminus of FLCN and amino acids 300 to 1166 of FNIP1 were shown to be required for optimal FLCN-FNIP1 binding. FLCN and FNIP1 colocalized to the cytoplasm in a reticular pattern. FNIP1 was phosphorylated by AMPK and its phosphorylation was inhibited in a dose-dependent manner by an AMPK inhibitor, resulting in reduced FNIP1 expression. FLCN phosphorylation was diminished by rapamycin and amino acid starvation and facilitated by FNIP1 overexpression, suggesting that FLCN phosphorylation may be regulated by mTOR and AMPK signaling. FLCN and FNIP1 may be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways.