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FLASH GENE
Symbol FLCN contributors: mct - updated : 07-10-2011
HGNC name folliculin
HGNC id 27310
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
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 splicing 1760 37.7 342 - 2008 18505456
    isoform 2
    14 splicing 3723 64.4 579 - 2008 18505456
    isoform 1
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
    Lymphoid/Immunespleen     Homo sapiens
     tonsils     Homo sapiens
    Nervousbrainhindbraincerebellum highly
    Respiratorylung     Homo sapiens
    Skin/Tegumentskin   highly Homo sapiens
    Urinarykidneynephron  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Epithelialbarrier/lining   
    Muscularstriatumskeletal highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphocyte Homo sapiens
    Lymphoid/Immunemacrophage Homo sapiens
    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
    intracellular,nucleus,nucleolus
    text
  • is localized in the nucleolus
  • 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
  • FLCN functions as a tumor suppressor by negatively regulating rRNA synthesis
  • 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
  • FLCN and PSMC6 interaction may be evolutionarily conserved between flies and humans
  • 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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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