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Flcn folliculin [ Mus musculus (house mouse) ]

Gene ID: 216805, updated on 27-Feb-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 
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 ATP biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 angiogenesis NAS
Non-traceable Author Statement
more info
PubMed 
involved_in negative regulation of brown fat cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell migration ISO
Inferred from Sequence Orthology
more info
 
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 cellular respiration 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 gene expression 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
 
involved_in negative regulation of mitochondrial DNA metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of muscle tissue development IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 protein localization to nucleus ISO
Inferred from Sequence Orthology
more info
 
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
 
involved_in positive regulation of cell adhesion 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 protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 
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 
involved_in regulation of cytokinesis ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of pro-B cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of protein phosphorylation ISO
Inferred from Sequence Orthology
more info
 
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)

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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