Flcn folliculin [Mus musculus (house mouse)] - Gene

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: human all
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Genomic context

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cigarette smoking is a secondary cause of folliculin loss.
Title: Cigarette smoking is a secondary cause of folliculin loss.
Loss of hepatic Flcn protects against fibrosis and inflammation by activating autophagy pathways.
Title: Loss of hepatic Flcn protects against fibrosis and inflammation by activating autophagy pathways.
Blood and lymphatic systems are segregated by the FLCN tumor suppressor.
Title: Blood and lymphatic systems are segregated by the FLCN tumor suppressor.
Myeloid Folliculin balances mTOR activation to maintain innate immunity homeostasis.
Title: Myeloid Folliculin balances mTOR activation to maintain innate immunity homeostasis.
FLCN alteration drives metabolic reprogramming towards nucleotide synthesis and cyst formation in salivary gland.
Title: FLCN alteration drives metabolic reprogramming towards nucleotide synthesis and cyst formation in salivary gland.
the novel AMPK-TFEB-FLCN axis, which may function as a key cascade for cellular and metabolic adaptations.
Title: AMPK promotes induction of the tumor suppressor FLCN through activation of TFEB independently of mTOR.
an evolutionarily conserved pathogen-resistance mechanism mediated by FLCN and AMPK via TFEB/TFE3
Title: The Transcription Factors TFEB and TFE3 Link the FLCN-AMPK Signaling Axis to Innate Immune Response and Pathogen Resistance.
An essential and novel role of the Flcn-Tfe3-Pgc1 axis in osteoclastogenesis through the metabolic reprogramming of oxidative phosphorylation and purine metabolism, is reported.
Title: Folliculin Regulates Osteoclastogenesis Through Metabolic Regulation.
These findings suggest that Dihydromyricetin treatment prevents palmitate-induced slow-twitch fibers decrease partially via FLCN-FNIP1-AMPK pathway thereby improving insulin resistance in obesity.
Title: Dihydromyricetin prevents obesity-induced slow-twitch-fiber reduction partially via FLCN/FNIP1/AMPK pathway.
Based on the phenotypes of our preclinical models, the FLCN H255Y mutant protein has lost it tumour suppressive function leading to the clinical manifestations of BHD, whereas the FLCN K508R mutant protein may have a dominant negative effect on the function of wild-type FLCN in regulating kidney cell proliferation and, therefore, act as an oncoprotein
Title: H255Y and K508R missense mutations in tumour suppressor folliculin (FLCN) promote kidney cell proliferation.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Variation

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Alleles

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

Gene trapped (1) 1 citation
Targeted (4) 1 citation
Endonuclease-mediated (4)

General gene information

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Markers

AU014660 (e-PCR)
- UniSTS:208687

PMC357045P1 (e-PCR)
- UniSTS:273290

Flcn (e-PCR), detects polymorphism
- UniSTS:546523

Flcn (e-PCR), detects polymorphism
- UniSTS:546524

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

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Preferred Names: folliculin

Names: birt-Hogg-Dube syndrome protein homolog

NP_001258285.1

EC 2.7.1.21

NP_001258286.1

EC 2.7.1.21

NP_666130.1

EC 2.7.1.21

XP_011247207.1

EC 2.7.1.21

XP_036012443.1

EC 2.7.1.21

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)

NM_001271356.1 → NP_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:106 → 265

Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport

pfam16692
Location:346 → 566

Folliculin_C; Folliculin C-terminal domain
NM_001271357.1 → NP_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:106 → 265

Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport

pfam16692
Location:346 → 566

Folliculin_C; Folliculin C-terminal domain
NM_146018.2 → NP_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:106 → 265

Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport

pfam16692
Location:346 → 566

Folliculin_C; Folliculin C-terminal domain

RNA

NR_073164.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL596204

Related

ENSMUST00000148151.8
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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

59682234..59706138 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011248905.4 → XP_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:106 → 265

Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport

pfam16692
Location:346 → 566

Folliculin_C; Folliculin C-terminal domain
XM_036156550.1 → XP_036012443.1 folliculin isoform X1

UniProtKB/Swiss-Prot

Q3U4U8, Q3UFZ1, Q5SWZ2, Q5SX01, Q5SX02, Q8CAC0, Q8QZS3

Conserved Domains (2) summary

pfam11704
Location:106 → 265

Folliculin; Vesicle coat protein involved in Golgi to plasma membrane transport

pfam16692
Location:346 → 566

Folliculin_C; Folliculin C-terminal domain