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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
Related
Birt-Hogg-Dube syndrome
General
phosphoprotein
Properties
SIZE: entity length = 579 aa
MW = 64 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: Ser phosphorylation site {S62}
Ser phosphorylation site {S73}
coiled coil {287-310}
MOTIF: Ser phosphorylation site {S302}
Database Correlations
OMIM correlations
MORBIDMAP 607273
UniProt Q8NFG4
Pfam PF11704
Entrez Gene 201163
Kegg hsa:201163
References
- UniProt :accession Q8NFG4
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/FLCN
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/FLCNID789ch17p11.html
- Leiden Open variation Database; Note: folliculin (FLCN)
http://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=FLCN