folliculin; Birt-Hogg-Dube syndrome protein; BHD skin lesion fibrofolliculoma protein (FLCN, BHD)

Function

• tumor suppressor (putative)
• may be involved in energy &/or nutrient sensing through the AMPK & mTOR signaling pathways
• may regulate phosphorylation of RPS6KB1
• phosphorylated; several different phosphorylated forms exist
• interacts (via C-terminus) with FNIP1 & FNIP2 (via C-terminus)
  • this mediates indirect interaction with the PRKAA1, PRKAB1 & PRKAG1 subunits of 5'-AMP-activated protein kinase

Structure

belongs to the folliculin family

Compartment

• cytoplasm, nucleus
• mainly localized in the nucleus
• co-localizes with FNIP1 & FNIP2 in the cytoplasm

Alternative splicing

named isoforms=3

Expression

• expressed in skin, lung, kidney, heart, testis, stomach

Pathology

• defects in FLCN are associated with Birt-Hogg-Dube syndrome majority of mutations prematurely terminate the protein
• defects in FLCN are in some cases a cause of primary spontaneous pneumothorax
• defects in FLCN may be a cause of renal cell carcinoma
• may be involved in colorectal tumorigenesis

More general terms

• phosphoprotein

Additional terms

• Birt-Hogg-Dube syndrome

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=201163
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:201163
• OMIM: https://mirror.omim.org/entry/135150
• OMIM: https://mirror.omim.org/entry/144700
• OMIM: https://mirror.omim.org/entry/173600
• OMIM: https://mirror.omim.org/entry/607273
• UniProt: http://www.uniprot.org/uniprot/Q8NFG4.html