{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Nookala RK"],"funding":["Wellcome Trust"],"pagination":["120071"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3438538"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["2(8)"],"pubmed_abstract":["Mutations in the renal tumour suppressor protein, folliculin, lead to proliferative skin lesions, lung complications and renal cell carcinoma. Folliculin has been reported to interact with AMP-activated kinase, a key component of the mammalian target of rapamycin pathway. Most cancer-causing mutations lead to a carboxy-terminal truncation of folliculin, pointing to a functional importance of this domain in tumour suppression. We present here the crystal structure of folliculin carboxy-terminal domain and demonstrate that it is distantly related to differentially expressed in normal cells and neoplasia (DENN) domain proteins, a family of Rab guanine nucleotide exchange factors (GEFs). Using biochemical analysis, we show that folliculin has GEF activity, indicating that folliculin is probabl"],"journal":["Open biology"],"pubmed_title":["Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer."],"pmcid":["PMC3438538"],"funding_grant_id":["097769/Z/11/Z","097769"],"pubmed_authors":["Barr FA","Chirgadze DY","Blundell TL","Bazan JF","Blaszczyk BK","Pacitto A","Ochoa-Montano B","Donaldson JC","Nookala RK","Langemeyer L"],"additional_accession":[]},"is_claimable":false,"name":"Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer.","description":"Mutations in the renal tumour suppressor protein, folliculin, lead to proliferative skin lesions, lung complications and renal cell carcinoma. Folliculin has been reported to interact with AMP-activated kinase, a key component of the mammalian target of rapamycin pathway. Most cancer-causing mutations lead to a carboxy-terminal truncation of folliculin, pointing to a functional importance of this domain in tumour suppression. We present here the crystal structure of folliculin carboxy-terminal domain and demonstrate that it is distantly related to differentially expressed in normal cells and neoplasia (DENN) domain proteins, a family of Rab guanine nucleotide exchange factors (GEFs). Using biochemical analysis, we show that folliculin has GEF activity, indicating that folliculin is probabl","dates":{"release":"2012-01-01T00:00:00Z","publication":"2012 Aug","modification":"2026-04-17T15:04:08.435Z","creation":"2019-03-27T00:57:48Z"},"accession":"S-EPMC3438538","cross_references":{"pubmed":["22977732"],"doi":["10.1098/rsob.120071"]}}