Sequence Detail

ID/Version

Q8QZS3 Q3UFZ1 Q5SX01 Q8CAC0 Q3U4U8 Q5SX02 Q5SWZ2 (UniProt | EBI)

Last sequence update: 2002-06-01
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=Folliculin {ECO:0000303|PubMed:18974783};AltName: Full=Birt-Hogg-Dube syndrome protein homolog {ECO:0000303|PubMed:19850877};

Provider

SWISS-PROT

Sequence

Polypeptide 579 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Flcn	folliculin	140	109	3	25

Sequence references in MGI

J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:130978 Baba M, et al., Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys. J Natl Cancer Inst. 2008 Jan 16;100(2):140-54
J:143718 Trost M, et al., The phagosomal proteome in interferon-gamma-activated macrophages. Immunity. 2009 Jan;30(1):143-54
J:143922 Chen J, et al., Deficiency of FLCN in mouse kidney led to development of polycystic kidneys and renal neoplasia. PLoS One. 2008;3(10):e3581
J:154667 Hasumi Y, et al., Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2. Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18722-7
J:201276 Betschinger J, et al., Exit from pluripotency is gated by intracellular redistribution of the bHLH transcription factor Tfe3. Cell. 2013 Apr 11;153(2):335-47
J:214735 Hasumi Y, et al., Folliculin (Flcn) inactivation leads to murine cardiac hypertrophy through mTORC1 deregulation. Hum Mol Genet. 2014 Nov 1;23(21):5706-19
J:285017 Wada S, et al., The tumor suppressor FLCN mediates an alternate mTOR pathway to regulate browning of adipose tissue. Genes Dev. 2016 Nov 15;30(22):2551-2564
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89
J:296987 Napolitano G, et al., A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dube syndrome. Nature. 2020 Sep;585(7826):597-602
J:298784 Kennedy JC, et al., Loss of FLCN inhibits canonical WNT signaling via TFE3. Hum Mol Genet. 2019 Oct 1;28(19):3270-3281