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    FLCN folliculin [ Homo sapiens (human) ]

    Gene ID: 201163, updated on 3-Jan-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
    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 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (17206946..17237191, 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 FunctionsWhat'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
    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
     
    mitochondrion organization IEA
    Inferred from Electronic Annotation
    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 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 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 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 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 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_001353229.1NP_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_001353230.1NP_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_001353231.1NP_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_144606.6NP_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, DA944035
      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, ENST00000285071.8
      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

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      17206946..17237191 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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