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FLASH GENE

Symbol

FLCN

contributors: mct - updated : 07-10-2011

HGNC name	folliculin
HGNC id	27310

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BHDS Birt-Hogg-Dube syndrome PSP primary spontaneous pneumothorax
Location	17p11.2      Physical location : 17.115.528 - 17.140.502
Synonym name	BHD skin lesion fibrofolliculoma protein
	Birt-Hogg-Dube syndrome protein
Synonym symbol(s)	BHD, FLCL, MGC23445, FLJ45004, FLJ99377, MGC17998, DKFZp547A118

DNA

TYPE	functioning gene
STRUCTURE	24.98 kb     14 Exon(s)

motif

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_144606 8 splicing 1760 NP_653207 37.7 342 - 2008 18505456 isoform 2 NM_144997 14 splicing 3723 NP_659434 64.4 579 - 2008 18505456 isoform 1

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine neuroendocrine pituitary     highly   pancreas         Nervous brain hindbrain cerebellum   highly Reproductive male system prostate       Respiratory lung         Skin/Tegument skin

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Epithelial barrier/lining       Muscular striatum skeletal   highly

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune macrophage

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	kidney, lung, liver, brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	SLS potential phosphorylation site
	one glutamic acid-rich coiled-coil domain
	one N glycosylation and three myristoylation sites
	FNIP1-binding domain in the C-terminus

HOMOLOGY

interspecies	ortholog to murine Flcn
	homolog to rattus Flcn

Homologene

FAMILY

folliculin family

CATEGORY

tumor suppressor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	may play a role in the pathogenesis of an uncommon form of kidney cancer through its association with an inherited disorder of the hair follicle (fibrofolliculomas)
	having an important function in modulating energy/nutrient-sensing signaling pathways
	involved in the regulation of rapamycin-sensitive mTOR complex
	involved in a mechanism of signal transduction downstream of tuberin
	may play a role in cellular energy and nutrient sensing through interactions with the AMPK-mTOR signaling pathway
	tumour suppressor in the kidney

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	complexing with AMPK, modulated by FLCN phosphorylation
	part of of FLCN-AMPK-FNIP complex which is regulated by Ser62 phosphorylation

INTERACTION

DNA

RNA

small molecule

protein	interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and FRAP1 signaling
	may interact with the energy- and nutrient-sensing AMPK-MTOR signaling pathways
	two FLCN binding proteins FNIP1 and FNIP2, interacting with AMPK, an important energy sensor in cells that negatively regulates MTOR, the master switch for cell growth and proliferation

cell & other

REGULATION

Other	regulated by FRAP1 and AMPK signaling
	phosphorylated by TSC2-mTOR pathway
	regulated by MTOR (FLCN function may be regulated by MTOR)

ASSOCIATED DISORDERS

corresponding disease(s)

BHDS , PSP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   LOH     in sporadic colorectal cancer in progression and in renal cell carcinoma tumoral       loss of function in sporadic colorectal cancer in progression and in renal cell carcinoma tumoral       loss of function inactivated in a significant fraction of patients with sporadic renal cancers and idiopathic cystic lung disease

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS