Flcn folliculin [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Flcnprovided by RGD
Official Full Name: folliculinprovided by RGD
Primary source: RGD:735088
See related: EnsemblRapid:ENSRNOG00000003302 AllianceGenome:RGD:735088
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Bhd
Summary: Predicted to enable enzyme binding activity and enzyme inhibitor activity. Predicted to contribute to GTPase activator activity. Predicted to be involved in several processes, including negative regulation of brown fat cell differentiation; negative regulation of metabolic process; and regulation of intracellular signal transduction. Predicted to act upstream of or within with a positive effect on negative regulation of cell population proliferation. Predicted to act upstream of or within negative regulation of epithelial cell proliferation and positive regulation of intrinsic apoptotic signaling pathway. Predicted to be located in several cellular components, including cell-cell contact zone; microtubule cytoskeleton; and midbody. Predicted to be part of FNIP-folliculin RagC/D GAP. Predicted to be active in cytosol. Used to study 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, Dec 2024]
Expression: Biased expression in Heart (RPKM 213.4), Muscle (RPKM 120.7) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 10q22

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	10	NC_086028.1 (45088164..45107581, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	10	NC_051345.1 (44588621..44607808, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	10	NC_005109.4 (46153185..46172331, complement)

Chromosome 10 - NC_086028.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

serine 62 is a phosphorylation site in FLCN.
Title: Serine 62 is a phosphorylation site in folliculin, the Birt-Hogg-Dubé gene product.
phosphorylation of FLCN at Ser62 and Ser302 are differently regulated by mTORC1-dependent pathway.
Title: Regulation of folliculin (the BHD gene product) phosphorylation by Tsc2-mTOR pathway.
The Nihon rat is a useful tool for analyzing the events leading to renal tumorigenesis and for studying BHD gene functions.
Title: Natural history of the Nihon (Bhd gene mutant) rat, a novel model for human Birt-Hogg-Dubé syndrome.
a germ-line mutation in the BHD gene caused by the insertion of a single nucleotide in the Nihon rat, results in a frameshift and produces a stop codon 26 aa downstream; the homozygous mutant condition was lethal at an early stage of fetal life
Title: A germ-line insertion in the Birt-Hogg-Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancer.

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH130087 (e-PCR)
- UniSTS:213375

PMC357045P1 (e-PCR)
- UniSTS:273290

PMC357045P10 (e-PCR)
- UniSTS:273291

PMC357045P11 (e-PCR)
- UniSTS:273292

PMC357045P12 (e-PCR)
- UniSTS:273293

PMC357045P2 (e-PCR)
- UniSTS:273294

PMC357045P3 (e-PCR)
- UniSTS:273295

PMC357045P4 (e-PCR)
- UniSTS:273296

PMC357045P5 (e-PCR)
- UniSTS:273297

PMC357045P6 (e-PCR)
- UniSTS:273298

PMC357045P7 (e-PCR)
- UniSTS:273299

PMC357045P8 (e-PCR)
- UniSTS:273300

PMC357045P9 (e-PCR)
- UniSTS:273301

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

Gene Ontology Provided by RGD

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 GTPase activator activity	ISS Inferred from Sequence or Structural Similarity 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
enables protein-containing complex binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of ERK1 and ERK2 cascade	ISO Inferred from Sequence Orthology more info
acts_upstream_of TOR signaling	ISO Inferred from Sequence Orthology more info
involved_in biological_process	ND No biological Data available more info
acts_upstream_of cell proliferation involved in kidney development	ISO Inferred from Sequence Orthology more info
involved_in cell-cell junction assembly	ISO Inferred from Sequence Orthology more info
involved_in cell-cell junction assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to amino acid starvation	ISO Inferred from Sequence Orthology more info
involved_in cellular response to amino acid starvation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to starvation	ISO Inferred from Sequence Orthology more info
involved_in cellular response to starvation	ISS Inferred from Sequence or Structural Similarity more info
involved_in energy homeostasis	ISO Inferred from Sequence Orthology more info
involved_in energy homeostasis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hemopoiesis	ISO Inferred from Sequence Orthology more info
involved_in hemopoiesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within in utero embryonic development	ISO Inferred from Sequence Orthology more info
involved_in in utero embryonic development	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular signal transduction	ISO Inferred from Sequence Orthology more info
involved_in intracellular signal transduction	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of intrinsic apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in lysosome localization	ISO Inferred from Sequence Orthology more info
involved_in lysosome localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of ERK1 and ERK2 cascade	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of Rho protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of Rho protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of TOR signaling	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of TOR signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of brown fat cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of brown fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within_positive_effect negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of cell proliferation involved in kidney development	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell proliferation involved in kidney development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cold-induced thermogenesis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within negative regulation of epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of post-translational protein modification	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	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of TOR signaling	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of TOR signaling	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of TOR signaling	ISS Inferred from Sequence or Structural Similarity 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 TORC1 signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of autophagy	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of autophagy	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of intrinsic apoptotic signaling pathway	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	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transforming growth factor beta receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of Ras protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in regulation of Ras protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of TOR signaling	ISO Inferred from Sequence Orthology more info
involved_in regulation of TOR signaling	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of pro-B cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in regulation of pro-B cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of FNIP-folliculin RagC/D GAP	ISO Inferred from Sequence Orthology more info
part_of FNIP-folliculin RagC/D GAP	ISS Inferred from Sequence or Structural Similarity more info
located_in cell-cell contact zone	ISO Inferred from Sequence Orthology more info
located_in cell-cell contact zone	ISS Inferred from Sequence or Structural Similarity more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in centrosome	ISS Inferred from Sequence or Structural Similarity more info
located_in cilium	ISO Inferred from Sequence Orthology more info
located_in cilium	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity 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 cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in midbody	ISO Inferred from Sequence Orthology more info
located_in midbody	ISS Inferred from Sequence or Structural Similarity more info
located_in mitotic spindle	ISO Inferred from Sequence Orthology more info
located_in mitotic spindle	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: folliculin

Names: birt-Hogg-Dube syndrome protein homolog

NP_955422.1

EC 2.7.1.21

XP_006246551.1

EC 2.7.1.21

XP_006246552.1

EC 2.7.1.21

XP_017452756.1

EC 2.7.1.21

XP_017452759.1

EC 2.7.1.21

XP_038941879.1

EC 2.7.1.21

XP_038941880.1

EC 2.7.1.21

XP_063125068.1

EC 2.7.1.21

XP_063125069.1

EC 2.7.1.21

XP_063125070.1

EC 2.7.1.21

XP_063125071.1

EC 2.7.1.21

XP_063125072.1

EC 2.7.1.21

XP_063125073.1

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_199390.2 → NP_955422.1 folliculin

See identical proteins and their annotated locations for NP_955422.1

Status: PROVISIONAL

Source sequence(s)

BC085848

UniProtKB/Swiss-Prot

Q76JQ2

Conserved Domains (2) summary

pfam11704
Location:106 → 265

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

pfam16692
Location:345 → 566

Folliculin_C; Folliculin C-terminal domain

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086028.1 Reference GRCr8

Range

45088164..45107581 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006246490.4 → XP_006246552.1 folliculin isoform X1

See identical proteins and their annotated locations for XP_006246552.1

UniProtKB/Swiss-Prot

Q76JQ2

Related

ENSRNOP00000004412.3, ENSRNOT00000004412.7

Conserved Domains (2) summary

pfam11704
Location:106 → 265

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

pfam16692
Location:345 → 566

Folliculin_C; Folliculin C-terminal domain
XM_006246489.5 → XP_006246551.1 folliculin isoform X1

See identical proteins and their annotated locations for XP_006246551.1

UniProtKB/Swiss-Prot

Q76JQ2

Conserved Domains (2) summary

pfam11704
Location:106 → 265

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

pfam16692
Location:345 → 566

Folliculin_C; Folliculin C-terminal domain
XM_039085951.2 → XP_038941879.1 folliculin isoform X1

UniProtKB/Swiss-Prot

Q76JQ2

Conserved Domains (2) summary

pfam11704
Location:106 → 265

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

pfam16692
Location:345 → 566

Folliculin_C; Folliculin C-terminal domain
XM_063269003.1 → XP_063125073.1 folliculin isoform X2
XM_017597270.3 → XP_017452759.1 folliculin isoform X2

Conserved Domains (2) summary

pfam11704
Location:106 → 264

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

pfam16692
Location:349 → 477

Folliculin_C; Folliculin C-terminal domain
XM_063269002.1 → XP_063125072.1 folliculin isoform X1

UniProtKB/Swiss-Prot

Q76JQ2
XM_063269001.1 → XP_063125071.1 folliculin isoform X1

UniProtKB/Swiss-Prot

Q76JQ2
XM_039085952.2 → XP_038941880.1 folliculin isoform X1

UniProtKB/Swiss-Prot

Q76JQ2

Conserved Domains (2) summary

pfam11704
Location:106 → 265

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

pfam16692
Location:345 → 566

Folliculin_C; Folliculin C-terminal domain
XM_063268999.1 → XP_063125069.1 folliculin isoform X1

UniProtKB/Swiss-Prot

Q76JQ2
XM_063269000.1 → XP_063125070.1 folliculin isoform X1

UniProtKB/Swiss-Prot

Q76JQ2
XM_017597267.3 → XP_017452756.1 folliculin isoform X1

UniProtKB/Swiss-Prot

Q76JQ2

Conserved Domains (2) summary

pfam11704
Location:106 → 265

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

pfam16692
Location:345 → 566

Folliculin_C; Folliculin C-terminal domain
XM_063268998.1 → XP_063125068.1 folliculin isoform X1

UniProtKB/Swiss-Prot

Q76JQ2