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FLCN folliculin [ Homo sapiens (human) ]

Gene ID: 201163, updated on 26-Aug-2014
Official Symbol
FLCNprovided by HGNC
Official Full Name
folliculinprovided by HGNC
Primary source
HGNC:27310
See related
Ensembl:ENSG00000154803; HPRD:06278; MIM:607273; Vega:OTTHUMG00000059275
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BHD; FLCL
Summary
This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
See FLCN in Epigenomics, MapViewer
Location:
17p11.2
Exon count:
16
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 17 NC_000017.11 (17212209..17237190, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (17115523..17140502, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene myosin phosphatase Rho interacting protein Neighboring gene uncharacterized LOC101928660 Neighboring gene phospholipase D family, member 6 Neighboring gene POTE ankyrin domain family, member N, pseudogene Neighboring gene COP9 signalosome subunit 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with folliculin (FLCN) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Renal cell carcinoma, organism-specific biosystem (from KEGG)
    Renal cell carcinoma, organism-specific biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
  • Renal cell carcinoma, conserved biosystem (from KEGG)
    Renal cell carcinoma, conserved biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ45004, FLJ99377, MGC17998, MGC23445, DKFZp547A118

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-cell junction assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
hemopoiesis ISS
Inferred from Sequence or Structural Similarity
more info
 
in utero embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of ATP biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of ERK1 and ERK2 cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of Rho protein signal transduction IMP
Inferred from Mutant Phenotype
more info
 
negative regulation of TOR signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell growth IDA
Inferred from Direct Assay
more info
 
negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
 
negative regulation of cell proliferation involved in kidney development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of energy homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of mitochondrion organization ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of protein kinase B signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of protein localization to nucleus IDA
Inferred from Direct Assay
more info
 
negative regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
 
negative regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
 
positive regulation of TOR signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell adhesion IMP
Inferred from Mutant Phenotype
more info
 
positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
 
positive regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
 
positive regulation of transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
 
positive regulation of transforming growth factor beta receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of TOR signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cytokinesis IMP
Inferred from Mutant Phenotype
more info
 
regulation of histone acetylation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of pro-B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with cell-cell contact zone IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
colocalizes_with midbody IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
Preferred Names
folliculin
Names
folliculin
birt-Hogg-Dube syndrome protein
BHD skin lesion fibrofolliculoma protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008001.2 

    Range
    5001..29977
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_325

mRNA and Protein(s)

  1. NM_144606.5NP_653207.1  folliculin isoform 2

    See proteins identical to NP_653207.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, as compared to variant 1. Isoform 2 has a shorter and distinct C-terminus, as compared to isoform 1.
    Source sequence(s)
    BC015687, CX759825, DA461022, DA944035
    Consensus CDS
    CCDS32580.1
    UniProtKB/Swiss-Prot
    Q8NFG4
    Related
    ENSP00000373821, OTTHUMP00000065504, ENST00000389169, OTTHUMT00000131578
    Conserved Domains (1) summary
    pfam11704
    Location:104267
    Blast Score: 615
    Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
  2. NM_144997.5NP_659434.2  folliculin isoform 1

    See proteins identical to NP_659434.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC055811, AF517523, CX759825, DA461022, DA944035
    Consensus CDS
    CCDS32579.1
    UniProtKB/Swiss-Prot
    Q8NFG4
    Related
    ENSP00000285071, OTTHUMP00000065503, ENST00000285071, OTTHUMT00000131577
    Conserved Domains (1) summary
    pfam11704
    Location:104267
    Blast Score: 615
    Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

    Range
    17212209..17237190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256515.1XP_005256572.1  

    See proteins identical to XP_005256572.1

    UniProtKB/Swiss-Prot
    Q8NFG4
    Conserved Domains (1) summary
    pfam11704
    Location:104267
    Blast Score: 615
    Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
  2. XM_006721470.1XP_006721533.1  

    Conserved Domains (1) summary
    pfam11704
    Location:104267
    Blast Score: 617
    Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport

RNA

  1. XR_429812.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    16868444..16893256
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

    Range
    17125252..17150222
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)