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    Flcn folliculin [ Mus musculus (house mouse) ]

    Gene ID: 216805, updated on 11-Apr-2024

    Summary

    Official Symbol
    Flcnprovided by MGI
    Official Full Name
    folliculinprovided by MGI
    Primary source
    MGI:MGI:2442184
    See related
    Ensembl:ENSMUSG00000032633 AllianceGenome:MGI:2442184
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Bhd; FLCL; B430214A04Rik
    Summary
    Predicted to enable GTPase activator activity. Involved in several processes, including energy homeostasis; negative regulation of brown fat cell differentiation; and negative regulation of nitrogen compound metabolic process. Acts upstream of or within with a positive effect on negative regulation of cell population proliferation. Acts upstream of or within several processes, including negative regulation of cell proliferation involved in kidney development; positive regulation of transforming growth factor beta receptor signaling pathway; and regulation of intracellular signal transduction. Predicted to be located in several cellular components, including cilium; lysosomal membrane; and microtubule cytoskeleton. Predicted to be active in cytosol. Predicted to colocalize with cell-cell contact zone and midbody. Is expressed in several structures, including embryo ectoderm; exocrine gland; extraembryonic component; limb bud; and optic cup. Used to study Birt-Hogg-Dube syndrome and nonpapillary renal cell carcinoma. Human ortholog(s) of this gene implicated in Birt-Hogg-Dube syndrome; colorectal cancer; primary spontaneous pneumothorax; and renal cell carcinoma. Orthologous to human FLCN (folliculin). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 26.2), lung adult (RPKM 21.5) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Flcn in Genome Data Viewer
    Location:
    11 B1.3; 11 37.79 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (59682234..59706138, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (59791408..59810039, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene myosin phosphatase Rho interacting protein Neighboring gene predicted gene, 51899 Neighboring gene phospholipase D family member 6 Neighboring gene STARR-seq mESC enhancer starr_29631 Neighboring gene predicted gene 16062 Neighboring gene COP9 signalosome subunit 3 Neighboring gene STARR-positive B cell enhancer ABC_E5233 Neighboring gene STARR-positive B cell enhancer ABC_E2354 Neighboring gene predicted gene, 51946 Neighboring gene 5',3'-nucleotidase, mitochondrial

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    General gene information

    Markers

    Clone Names

    • MGC37841

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    contributes_to GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activator activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables enzyme inhibitor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of TOR signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in TOR signaling ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of cell proliferation involved in kidney development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell-cell junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to amino acid starvation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to starvation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in energy homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within hemopoiesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lysosome localization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of Rho protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of TOR signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of brown fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within_positive_effect negative regulation of cell population proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of cell proliferation involved in kidney development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cold-induced thermogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of glycolytic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of lysosome organization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of post-translational protein modification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of TOR signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of TOR signaling ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of TORC1 signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of TORC1 signaling ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of autophagy ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of intrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within positive regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of Ras protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of TOR signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of pro-B cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of FNIP-folliculin RagC/D GAP ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with cell-cell contact zone ISO
    Inferred from Sequence Orthology
    more info
     
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cilium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with midbody ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitotic spindle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    folliculin
    Names
    birt-Hogg-Dube syndrome protein homolog
    NP_001258285.1
    NP_001258286.1
    NP_666130.1
    XP_011247207.1
    XP_036012443.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001271356.1NP_001258285.1  folliculin

      See identical proteins and their annotated locations for NP_001258285.1

      Status: VALIDATED

      Source sequence(s)
      AL596204
      Consensus CDS
      CCDS24777.1
      UniProtKB/Swiss-Prot
      Q3U4U8, Q3UFZ1, Q5SWZ2, Q5SX01, Q5SX02, Q8CAC0, Q8QZS3
      Conserved Domains (2) summary
      pfam11704
      Location:106265
      Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
      pfam16692
      Location:346566
      Folliculin_C; Folliculin C-terminal domain
    2. NM_001271357.1NP_001258286.1  folliculin

      See identical proteins and their annotated locations for NP_001258286.1

      Status: VALIDATED

      Source sequence(s)
      AK039106, AK136071, CJ052419
      Consensus CDS
      CCDS24777.1
      UniProtKB/Swiss-Prot
      Q3U4U8, Q3UFZ1, Q5SWZ2, Q5SX01, Q5SX02, Q8CAC0, Q8QZS3
      Related
      ENSMUSP00000091696.4, ENSMUST00000091246.11
      Conserved Domains (2) summary
      pfam11704
      Location:106265
      Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
      pfam16692
      Location:346566
      Folliculin_C; Folliculin C-terminal domain
    3. NM_146018.2NP_666130.1  folliculin

      See identical proteins and their annotated locations for NP_666130.1

      Status: VALIDATED

      Source sequence(s)
      AK039106, AK080933, CJ059253
      Consensus CDS
      CCDS24777.1
      UniProtKB/Swiss-Prot
      Q3U4U8, Q3UFZ1, Q5SWZ2, Q5SX01, Q5SX02, Q8CAC0, Q8QZS3
      Related
      ENSMUSP00000099758.4, ENSMUST00000102697.10
      Conserved Domains (2) summary
      pfam11704
      Location:106265
      Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
      pfam16692
      Location:346566
      Folliculin_C; Folliculin C-terminal domain

    RNA

    1. NR_073164.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL596204
      Related
      ENSMUST00000148151.8
    2. NR_156702.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL596204

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      59682234..59706138 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011248905.4XP_011247207.1  folliculin isoform X1

      See identical proteins and their annotated locations for XP_011247207.1

      UniProtKB/Swiss-Prot
      Q3U4U8, Q3UFZ1, Q5SWZ2, Q5SX01, Q5SX02, Q8CAC0, Q8QZS3
      Conserved Domains (2) summary
      pfam11704
      Location:106265
      Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
      pfam16692
      Location:346566
      Folliculin_C; Folliculin C-terminal domain
    2. XM_036156550.1XP_036012443.1  folliculin isoform X1

      UniProtKB/Swiss-Prot
      Q3U4U8, Q3UFZ1, Q5SWZ2, Q5SX01, Q5SX02, Q8CAC0, Q8QZS3
      Conserved Domains (2) summary
      pfam11704
      Location:106265
      Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport
      pfam16692
      Location:346566
      Folliculin_C; Folliculin C-terminal domain

    RNA

    1. XR_003949382.1 RNA Sequence