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FLCN folliculin [ Homo sapiens (human) ]

Gene ID: 201163, updated on 12-Oct-2019

Summary

Official Symbol
FLCNprovided by HGNC
Official Full Name
folliculinprovided by HGNC
Primary source
HGNC:HGNC:27310
See related
Ensembl:ENSG00000154803 MIM:607273
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; DENND8B
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]
Expression
Ubiquitous expression in endometrium (RPKM 9.4), ovary (RPKM 9.3) and 25 other tissues See more
Orthologs

Genomic context

See FLCN in Genome Data Viewer
Location:
17p11.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (17206946..17237188, 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 RNA, 7SL, cytoplasmic 775, pseudogene Neighboring gene phospholipase D family member 6 Neighboring gene actin gamma 1 pseudogene 24 Neighboring gene COP9 signalosome subunit 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2016-11-10)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2016-11-10)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

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 Interaction Database

Pathways from BioSystems

  • 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...
  • mTOR signaling pathway, organism-specific biosystem (from KEGG)
    mTOR signaling pathway, organism-specific biosystemThe mammalian (mechanistic) target of rapamycin (mTOR) is a highly conserved serine/threonine protein kinase, which exists in two complexes termed mTOR complex 1 (mTORC1) and 2 (mTORC2). mTORC1 conta...
  • mTOR signaling pathway, conserved biosystem (from KEGG)
    mTOR signaling pathway, conserved biosystemThe mammalian (mechanistic) target of rapamycin (mTOR) is a highly conserved serine/threonine protein kinase, which exists in two complexes termed mTOR complex 1 (mTORC1) and 2 (mTORC2). mTORC1 conta...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ45004, FLJ99377, MGC17998, MGC23445, DKFZp547A118

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing 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
 
energy homeostasis 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
PubMed 
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
PubMed 
negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell proliferation involved in kidney development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cellular respiration IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of mitochondrial DNA metabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of mitochondrion organization ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of post-translational protein modification IEA
Inferred from Electronic Annotation
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
PubMed 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of TOR signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of TORC1 signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of intrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
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
PubMed 
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
PubMed 
cilium TAS
Traceable Author Statement
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
lysosome TAS
Traceable Author Statement
more info
PubMed 
colocalizes_with midbody IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
folliculin
Names
BHD skin lesion fibrofolliculoma protein
birt-Hogg-Dube syndrome protein
NP_001340158.1
NP_001340159.1
NP_001340160.1
NP_653207.1
NP_659434.2
XP_011522016.1
XP_011522020.1
XP_011522021.1
XP_011522023.1
XP_016879794.1
XP_016879797.1
XP_016879798.1
XP_024306403.1

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001353229.2NP_001340158.1  folliculin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC055811
    Conserved Domains (2) summary
    pfam11704
    Location:106283
    Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
    pfam16692
    Location:367581
    Folliculin_C; Folliculin C-terminal domain
  2. NM_001353230.2NP_001340159.1  folliculin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC055811
    Consensus CDS
    CCDS32579.1
    Conserved Domains (2) summary
    pfam11704
    Location:106265
    Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
    pfam16692
    Location:349563
    Folliculin_C; Folliculin C-terminal domain
  3. NM_001353231.2NP_001340160.1  folliculin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC055811
    Consensus CDS
    CCDS32579.1
    Conserved Domains (2) summary
    pfam11704
    Location:106265
    Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
    pfam16692
    Location:349563
    Folliculin_C; Folliculin C-terminal domain
  4. NM_144606.7NP_653207.1  folliculin isoform 2

    See identical proteins and their annotated locations for 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)
    AC055811, BC015687, CX759825, DA461022
    Consensus CDS
    CCDS32580.1
    UniProtKB/Swiss-Prot
    Q8NFG4
    UniProtKB/TrEMBL
    A0A0S2Z5Y7
    Related
    ENSP00000373821.5, ENST00000389169.9
    Conserved Domains (1) summary
    pfam11704
    Location:106265
    Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
  5. NM_144997.7NP_659434.2  folliculin isoform 1

    See identical proteins and their annotated locations for NP_659434.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AC055811, AF517523, CX759825, DA461022
    Consensus CDS
    CCDS32579.1
    UniProtKB/Swiss-Prot
    Q8NFG4
    Related
    ENSP00000285071.4, ENST00000285071.9
    Conserved Domains (2) summary
    pfam11704
    Location:106265
    Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
    pfam16692
    Location:349563
    Folliculin_C; Folliculin C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    17206946..17237188 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523719.3XP_011522021.1  folliculin isoform X3

    Conserved Domains (2) summary
    pfam11704
    Location:106282
    Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
    pfam16692
    Location:367530
    Folliculin_C; Folliculin C-terminal domain
  2. XM_017024309.2XP_016879798.1  folliculin isoform X4

    Conserved Domains (2) summary
    pfam11704
    Location:106190
    Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
    pfam16692
    Location:275489
    Folliculin_C; Folliculin C-terminal domain
  3. XM_011523714.3XP_011522016.1  folliculin isoform X1

    See identical proteins and their annotated locations for XP_011522016.1

    Conserved Domains (2) summary
    pfam11704
    Location:106283
    Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
    pfam16692
    Location:367581
    Folliculin_C; Folliculin C-terminal domain
  4. XM_017024305.2XP_016879794.1  folliculin isoform X1

    Conserved Domains (2) summary
    pfam11704
    Location:106283
    Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
    pfam16692
    Location:367581
    Folliculin_C; Folliculin C-terminal domain
  5. XM_024450635.1XP_024306403.1  folliculin isoform X1

    Conserved Domains (2) summary
    pfam11704
    Location:106283
    Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
    pfam16692
    Location:367581
    Folliculin_C; Folliculin C-terminal domain
  6. XM_011523718.3XP_011522020.1  folliculin isoform X1

    See identical proteins and their annotated locations for XP_011522020.1

    Conserved Domains (2) summary
    pfam11704
    Location:106283
    Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
    pfam16692
    Location:367581
    Folliculin_C; Folliculin C-terminal domain
  7. XM_017024308.1XP_016879797.1  folliculin isoform X2

    UniProtKB/Swiss-Prot
    Q8NFG4
    Conserved Domains (2) summary
    pfam11704
    Location:106265
    Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
    pfam16692
    Location:349563
    Folliculin_C; Folliculin C-terminal domain
  8. XM_011523721.3XP_011522023.1  folliculin isoform X1

    See identical proteins and their annotated locations for XP_011522023.1

    Conserved Domains (2) summary
    pfam11704
    Location:106283
    Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
    pfam16692
    Location:367581
    Folliculin_C; Folliculin C-terminal domain

RNA

  1. XR_001752445.2 RNA Sequence

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