Folliculin
Encyclopedia
Folliculin also known as FLCN, BHD, FLCL, FLCN_HUMAN, MGC17998, or MGC23445 is a tumor-suppressor
protein
associated with Birt-Hogg-Dubé syndrome
. It is encoded by the Folliculin gene
sometimes also referred to as the BHD gene.
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.
Molecular Location on chromosome 17: base pairs 17,056,250 to 17,081,220
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.
A novel signaling pathway consolidating recent research on the Folliculin protein has been devised at BHDSyndrome.org. This is meant to act as an aid to researchers in the field and can be found in the 'Current Research' section here.
The Myrovlytis Trust has recently started supporting research into BHD syndrome and has launched the world's first website dedicated to BHD syndrome - BHDSyndrome.org
Tumor suppressor gene
A tumor suppressor gene, or anti-oncogene, is a gene that protects a cell from one step on the path to cancer. When this gene is mutated to cause a loss or reduction in its function, the cell can progress to cancer, usually in combination with other genetic changes.-Two-hit hypothesis:Unlike...
protein
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
associated with Birt-Hogg-Dubé syndrome
Birt-Hogg-Dubé syndrome
Birt–Hogg–Dubé syndrome is a human genetic disorder that involves susceptibility to renal cancer, renal and pulmonary cysts, and noncancerous tumors of the hair follicles. The disorder has been reported in more than 100 families worldwide, and it is inherited in an autosomal dominant pattern...
. It is encoded by the Folliculin gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
sometimes also referred to as the BHD gene.
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.
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 cytoplasmCytoplasm
The cytoplasm is a small gel-like substance residing between the cell membrane holding all the cell's internal sub-structures , except for the nucleus. All the contents of the cells of prokaryote organisms are contained within the cytoplasm...
in a reticular pattern. FNIP1 was phosphorylated
Phosphorylation
Phosphorylation is the addition of a phosphate group to a protein or other organic molecule. Phosphorylation activates or deactivates many protein enzymes....
by AMPK
AMP-activated protein kinase
5' AMP-activated protein kinase or AMPK or 5' adenosine monophosphate-activated protein kinase is an enzyme that plays a role in cellular energy homeostasis. It consists of three proteins that together make a functional enzyme, conserved from yeast to humans. It is expressed in a number of...
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
Mammalian target of rapamycin
The mammalian target of rapamycin also known as mechanistic target of rapamycin or FK506 binding protein 12-rapamycin associated protein 1 is a protein which in humans is encoded by the FRAP1 gene...
and AMPK signaling. FLCN and FNIP1 may be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways.
A novel signaling pathway consolidating recent research on the Folliculin protein has been devised at BHDSyndrome.org. This is meant to act as an aid to researchers in the field and can be found in the 'Current Research' section here.
External links
- Baba, M. et al. "Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling." http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1592464
The Myrovlytis Trust has recently started supporting research into BHD syndrome and has launched the world's first website dedicated to BHD syndrome - BHDSyndrome.org