Q8NFG4 (FLCN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Folliculin

Alternative name(s):
BHD skin lesion fibrofolliculoma protein
Birt-Hogg-Dube syndrome protein

Gene names

Name:	FLCN
Synonyms:	BHD

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	579 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May play a role in the pathogenesis of an uncommon form of kidney cancer through its association with an inherited disorder of the hair follicle (fibrofolliculomas). May be a tumor suppressor. May be involved in colorectal tumorigenesis. May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1. Ref.1 Ref.10 Ref.12
Subunit structure	Interacts (via C-terminus) with FNIP1 and FNIP2 (via C-terminus). This mediates indirect interaction with the PRKAA1, PRKAB1 and PRKAG1 subunits of 5'-AMP-activated protein kinase. Ref.10 Ref.11 Ref.12
Subcellular location	Cytoplasm. Nucleus. Note: Mainly localized in the nucleus. Co-localizes with FNIP1 and FNIP2 in the cytoplasm. Ref.10 Ref.12
Tissue specificity	Expressed in most tissues tested, including skin, lung, kidney, heart, testis and stomach. Ref.1
Developmental stage	Expressed in fetal lung, kidney, liver, and brain. Ref.1
Post-translational modification	Phosphorylated. Several different phosphorylated forms exist. Ref.10 Ref.13 Ref.14
Involvement in disease	Defects in FLCN are the cause of Birt-Hogg-Dube syndrome (BHD) [MIM:135150]. BHD is a rare autosomal dominant genodermatosis characterized by hair follicle hamartomas (fibrofolliculomas), kidney tumors, and spontaneous pneumothorax. Fibrofolliculomas are part of the triad of BHD skin lesions that also includes trichodiscomas and acrochordons. Onset of this dermatologic condition is invariably in adulthood. BHD is associated with a variety of histologic types of renal tumors, including chromophobe renal cell carcinoma (RCC), benign renal oncocytoma, clear-cell RCC and papillary type I RCC. Multiple lipomas, angiolipomas, and parathyroid adenomas are also seen in patients affected with this disease. The majority of mutations are predicted to prematurely terminate the protein. Ref.18 Ref.19 Defects in FLCN are in some cases a cause of primary spontaneous pneumothorax (PSP) [MIM:173600]. PSP is a condition in which air is present in the pleural space in the absence of a precipitating event, such as trauma or lung disease. This results in secondary collapse of the lung, either partially or completely, and some degree of hypoxia. PSP is relatively common, with an incidence between 7.4-18/100'000 for men and 1.2-6/100'000 for women and a dose-dependent, increased risk among smokers. Most cases are sporadic, typically occurring in tall, thin men aged 10-30 years and generally while at rest. Familial PSP is rarer and usually is inherited as an autosomal dominant condition with reduced penetrance, although X-linked recessive and autosomal recessive inheritance have also been suggested. Ref.8 Ref.16 Ref.17 Defects in FLCN may be a cause of renal cell carcinoma (RCC) [MIM:144700]. Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype. Ref.15
Sequence similarities	Belongs to the folliculin family.

Ontologies

Keywords
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Tumor suppressor
Domain	Coiled coil
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	regulation of protein phosphorylation Inferred from direct assay Ref.12. Source: UniProtKB
Cellular component	cytoplasm Inferred from direct assay Ref.12. Source: UniProtKB nucleus Inferred from direct assay Ref.12. Source: UniProtKB plasma membrane Inferred from direct assay. Source: HPA
Molecular function	protein binding Inferred from physical interaction Ref.11Ref.12. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8NFG4-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q8NFG4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     291-342: DLEEESESWD...SGCGSWQPRK → GEAGVLLPGP...LREAHPPISV
     343-579: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q8NFG4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     134-197: CPGREGPIFF...FLLGKVRGII → SLVATEPVSV...ELREESCWTC
     198-579: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 579	579	Folliculin		PRO_0000223940
Regions
	Coiled coil	287 – 310	24	Potential
Amino acid modifications
	Modified residue	62	1	Phosphoserine Ref.13 Ref.14
	Modified residue	73	1	Phosphoserine Ref.13 Ref.14
	Modified residue	302	1	Phosphoserine Ref.14
Natural variations
	Alternative sequence	134 – 197	64	CPGRE…VRGII → SLVATEPVSVGAHMLPGALG GLGASIAQGGRHWSSLRADP QISTAQGTGRLPCPELREES CWTC in isoform 3.		VSP_017312
	Alternative sequence	198 – 579	382	Missing in isoform 3.		VSP_017313
	Alternative sequence	291 – 342	52	DLEEE…WQPRK → GEAGVLLPGPWPGWPWGGTS CLLSWQESLREGNAALNQPR TSLREAHPPISV in isoform 2.		VSP_017314
	Alternative sequence	343 – 579	237	Missing in isoform 2.		VSP_017315
	Natural variant	79	1	S → W in a sporadic colorectal carcinoma; somatic mutation.		VAR_025356
	Natural variant	108	1	S → I in BHD. Ref.19		VAR_066023
	Natural variant	132	1	E → K in PSP. Ref.17		VAR_066024
	Natural variant	157	1	Missing in PSP; impaired protein stability.		VAR_066025
	Natural variant	238	1	A → V in a renal cell carcinoma cell line. Ref.7		VAR_025357
	Natural variant	239	1	R → C in RCC; impaired protein stability. Ref.15 Ref.20		VAR_066026
	Natural variant	320	1	R → Q in a primary colorectal cancer. Ref.7		VAR_025358
	Natural variant	362	1	R → C Found in a colorectal cell line; impaired protein stability. Ref.20		VAR_066027
	Natural variant	392	1	R → G in a primary colorectal cancer; somatic mutation. Ref.7		VAR_025359
	Natural variant	429	1	H → Y in PSP. Ref.16		VAR_066028
	Natural variant	444	1	A → S in a primary clear-cell renal cell carcinoma; somatic mutation. Ref.7		VAR_025360
	Natural variant	445	1	A → T in a sporadic colorectal carcinoma; somatic mutation. Corresponds to variant rs41419545 [ dbSNP | Ensembl ].		VAR_025361
	Natural variant	508	1	K → R in BHD; does not impair protein stability, growth suppression activity or intracellular localization of folliculin. Ref.18 Ref.20		VAR_066029

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: E168EB34544C6336	FASTA	579	64,473
	10 20 30 40 50 60 MNAIVALCHF CELHGPRTLF CTEVLHAPLP QGDGNEDSPG QGEQAEEEEG GIQMNSRMRA 70 80 90 100 110 120 HSPAEGASVE SSSPGPKKSD MCEGCRSLAA GHPGYISHDK ETSIKYVSHQ HPSHPQLFSI 130 140 150 160 170 180 VRQACVRSLS CEVCPGREGP IFFGDEQHGF VFSHTFFIKD SLARGFQRWY SIITIMMDRI 190 200 210 220 230 240 YLINSWPFLL GKVRGIIDEL QGKALKVFEA EQFGCPQRAQ RMNTAFTPFL HQRNGNAARS 250 260 270 280 290 300 LTSLTSDDNL WACLHTSFAW LLKACGSRLT EKLLEGAPTE DTLVQMEKLA DLEEESESWD 310 320 330 340 350 360 NSEAEEEEKA PVLPESTEGR ELTQGPAESS SLSGCGSWQP RKLPVFKSLR HMRQVLGAPS 370 380 390 400 410 420 FRMLAWHVLM GNQVIWKSRD VDLVQSAFEV LRTMLPVGCV RIIPYSSQYE EAYRCNFLGL 430 440 450 460 470 480 SPHVQIPPHV LSSEFAVIVE VHAAARSTLH PVGCEDDQSL SKYEFVVTSG SPVAADRVGP 490 500 510 520 530 540 TILNKIEAAL TNQNLSVDVV DQCLVCLKEE WMNKVKVLFK FTKVDSRPKE DTQKLLSILG 550 560 570 ASEEDNVKLL KFWMTGLSKT YKSHLMSTVR SPTASESRN
	Isoform 2 [UniParc]. Checksum: 3147596F8D7DF849	FASTA	342	37,742
	10 20 30 40 50 60 MNAIVALCHF CELHGPRTLF CTEVLHAPLP QGDGNEDSPG QGEQAEEEEG GIQMNSRMRA 70 80 90 100 110 120 HSPAEGASVE SSSPGPKKSD MCEGCRSLAA GHPGYISHDK ETSIKYVSHQ HPSHPQLFSI 130 140 150 160 170 180 VRQACVRSLS CEVCPGREGP IFFGDEQHGF VFSHTFFIKD SLARGFQRWY SIITIMMDRI 190 200 210 220 230 240 YLINSWPFLL GKVRGIIDEL QGKALKVFEA EQFGCPQRAQ RMNTAFTPFL HQRNGNAARS 250 260 270 280 290 300 LTSLTSDDNL WACLHTSFAW LLKACGSRLT EKLLEGAPTE DTLVQMEKLA GEAGVLLPGP 310 320 330 340 WPGWPWGGTS CLLSWQESLR EGNAALNQPR TSLREAHPPI SV
	Isoform 3 [UniParc]. Checksum: 8B2D060B096D7F7B	FASTA	197	20,877
	10 20 30 40 50 60 MNAIVALCHF CELHGPRTLF CTEVLHAPLP QGDGNEDSPG QGEQAEEEEG GIQMNSRMRA 70 80 90 100 110 120 HSPAEGASVE SSSPGPKKSD MCEGCRSLAA GHPGYISHDK ETSIKYVSHQ HPSHPQLFSI 130 140 150 160 170 180 VRQACVRSLS CEVSLVATEP VSVGAHMLPG ALGGLGASIA QGGRHWSSLR ADPQISTAQG 190 TGRLPCPELR EESCWTC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome." Nickerson M.L., Warren M.B., Toro J.R., Matrosova V., Glenn G., Turner M.L., Duray P., Merino M., Choyke P.L., Pavlovich C.P., Sharma N., Walther M.M., Munroe D., Hill R., Maher E., Greenberg C., Lerman M.I., Linehan W.M., Zbar B., Schmidt L.S. Cancer Cell 2:157-164(2002) [PubMed: 12204536] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, INVOLVEMENT IN BIRT-HOGG-DUBE SYNDROME. Tissue: Lung.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Spleen.
[3]	"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C. Nature 440:1045-1049(2006) [PubMed: 16625196] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 267-579 (ISOFORM 1). Tissue: Skin.
[6]	"Alterations of the Birt-Hogg-Dube gene (BHD) in sporadic colorectal tumours." Kahnoski K., Khoo S.K., Nassif N.T., Chen J., Lobo G.P., Segelov E., Teh B.T. J. Med. Genet. 40:511-515(2003) [PubMed: 12843323] [Abstract] Cited for: POSSIBLE INVOLVEMENT IN COLORECTAL CANCER, VARIANTS TRP-79 AND THR-445.
[7]	"Analysis of the Birt-Hogg-Dube (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer." da Silva N.F., Gentle D., Hesson L.B., Morton D.G., Latif F., Maher E.R. J. Med. Genet. 40:820-824(2003) [PubMed: 14627671] [Abstract] Cited for: POSSIBLE INVOLVEMENT IN RENAL CELL CARCINOMA AND COLORECTAL CANCER, VARIANTS VAL-238; GLN-320; GLY-392 AND SER-444.
[8]	"A 4-bp deletion in the Birt-Hogg-Dube gene (FLCN) causes dominantly inherited spontaneous pneumothorax." Painter J.N., Tapanainen H., Somer M., Tukiainen P., Aittomaeki K. Am. J. Hum. Genet. 76:522-527(2005) [PubMed: 15657874] [Abstract] Cited for: INVOLVEMENT IN PSP.
[9]	"Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome." Schmidt L.S., Nickerson M.L., Warren M.B., Glenn G.M., Toro J.R., Merino M.J., Turner M.L., Choyke P.L., Sharma N., Peterson J., Morrison P., Maher E.R., Walther M.M., Zbar B., Linehan W.M. Am. J. Hum. Genet. 76:1023-1033(2005) [PubMed: 15852235] [Abstract] Cited for: INVOLVEMENT IN BIRT-HOGG-DUBE SYNDROME.
[10]	"Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling." Baba M., Hong S.-B., Sharma N., Warren M.B., Nickerson M.L., Iwamatsu A., Esposito D., Gillette W.K., Hopkins R.F. III, Hartley J.L., Furihata M., Oishi S., Zhen W., Burke T.R. Jr., Linehan W.M., Schmidt L.S., Zbar B. Proc. Natl. Acad. Sci. U.S.A. 103:15552-15557(2006) [PubMed: 17028174] [Abstract] Cited for: FUNCTION, PHOSPHORYLATION, SUBCELLULAR LOCATION, INTERACTION WITH FNIP1, IDENTIFICATION BY MASS SPECTROMETRY.
[11]	"Identification and characterization of a novel folliculin-interacting protein FNIP2." Hasumi H., Baba M., Hong S.-B., Hasumi Y., Huang Y., Yao M., Valera V.A., Linehan W.M., Schmidt L.S. Gene 415:60-67(2008) [PubMed: 18403135] [Abstract] Cited for: INTERACTION WITH FNIP2.
[12]	"Interaction of folliculin (Birt-Hogg-Dube gene product) with a novel Fnip1-like (FnipL/Fnip2) protein." Takagi Y., Kobayashi T., Shiono M., Wang L., Piao X., Sun G., Zhang D., Abe M., Hagiwara Y., Takahashi K., Hino O. Oncogene 27:5339-5347(2008) [PubMed: 18663353] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH FNIP2.
[13]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-62 AND SER-73, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[14]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-62; SER-73 AND SER-302, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[15]	"Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN." Woodward E.R., Ricketts C., Killick P., Gad S., Morris M.R., Kavalier F., Hodgson S.V., Giraud S., Bressac-de Paillerets B., Chapman C., Escudier B., Latif F., Richard S., Maher E.R. Clin. Cancer Res. 14:5925-5930(2008) [PubMed: 18794106] [Abstract] Cited for: VARIANT RCC CYS-239.
[16]	"Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax." Ren H.Z., Zhu C.C., Yang C., Chen S.L., Xie J., Hou Y.Y., Xu Z.F., Wang D.J., Mu D.K., Ma D.H., Wang Y., Ye M.H., Ye Z.R., Chen B.F., Wang C.G., Lin J., Qiao D., Yi L. Clin. Genet. 74:178-183(2008) [PubMed: 18505456] [Abstract] Cited for: VARIANTS PSP PHE-157 DEL AND TYR-429.
[17]	"Novel mutations in the folliculin gene associated with spontaneous pneumothorax." Frohlich B.A., Zeitz C., Matyas G., Alkadhi H., Tuor C., Berger W., Russi E.W. Eur. Respir. J. 32:1316-1320(2008) [PubMed: 18579543] [Abstract] Cited for: VARIANT PSP LYS-132.
[18]	"BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports." Toro J.R., Wei M.H., Glenn G.M., Weinreich M., Toure O., Vocke C., Turner M., Choyke P., Merino M.J., Pinto P.A., Steinberg S.M., Schmidt L.S., Linehan W.M. J. Med. Genet. 45:321-331(2008) [PubMed: 18234728] [Abstract] Cited for: VARIANT BHD ARG-508.
[19]	"Birt-Hogg-Dube syndrome: clinical and genetic studies of 10 French families." Kluger N., Giraud S., Coupier I., Avril M.F., Dereure O., Guillot B., Richard S., Bessis D. Br. J. Dermatol. 162:527-537(2010) [PubMed: 19785621] [Abstract] Cited for: VARIANT BHD ILE-108.
[20]	"Birt Hogg-Dube syndrome-associated FLCN mutations disrupt protein stability." Nahorski M.S., Reiman A., Lim D.H., Nookala R.K., Seabra L., Lu X., Fenton J., Boora U., Nordenskjold M., Latif F., Hurst L.D., Maher E.R. Hum. Mutat. 32:921-929(2011) [PubMed: 21538689] [Abstract] Cited for: VARIANT CYS-362, CHARACTERIZATION OF VARIANTS PHE-157 DEL; CYS-239; CYS-362 AND ARG-508.
+	Additional computationally mapped references.

Web resources

GeneReviews

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Leiden Open Variation Database

Folliculin (FLCN)

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF517523 mRNA. Translation: AAM94803.1. AK127912 mRNA. Translation: BAC87186.1. AK126951 mRNA. Translation: BAC86760.1. AC055811 Genomic DNA. No translation available. CH471196 Genomic DNA. Translation: EAW55716.1. BC015687 mRNA. Translation: AAH15687.1. BC015725 mRNA. Translation: AAH15725.2.
IPI	IPI00185096. IPI00329635. IPI00444197.
RefSeq	NP_653207.1. NM_144606.5. NP_659434.2. NM_144997.5.
UniGene	Hs.31652.
3D structure databases
ProteinModelPortal	Q8NFG4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8NFG4. 3 interactions.
STRING	Q8NFG4.
PTM databases
PhosphoSite	Q8NFG4.
Polymorphism databases
DMDM	74751276.
Proteomic databases
PRIDE	Q8NFG4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000285071; ENSP00000285071; ENSG00000154803.
GeneID	201163.
KEGG	hsa:201163.
UCSC	uc002gra.2. human. uc002grb.2. human. uc002grc.2. human.
Organism-specific databases
CTD	201163.
GeneCards	GC17M017056.
H-InvDB	HIX0202417.
HGNC	HGNC:27310. FLCN.
HPA	CAB015158. HPA028760.
MIM	135150. phenotype. 144700. phenotype. 173600. phenotype. 607273. gene.
neXtProt	NX_Q8NFG4.
Orphanet	122. Birt-Hogg-Dube syndrome. 2903. Familial spontaneous pneumothorax.
PharmGKB	PA134901005.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG18578.
GeneTree	ENSGT00390000009864.
HOGENOM	HBG716059.
HOVERGEN	HBG081531.
InParanoid	Q8NFG4.
OMA	LLKFWMT.
OrthoDB	EOG4P8FHW.
PhylomeDB	Q8NFG4.
Gene expression databases
ArrayExpress	Q8NFG4.
Bgee	Q8NFG4.
CleanEx	HS_FLCN.
Genevestigator	Q8NFG4.
GermOnline	ENSG00000154803. Homo sapiens.
Family and domain databases
InterPro	IPR021713. Folliculin. [Graphical view]
KO	K09594.
Pfam	PF11704. Folliculin. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	90061.
SOURCE	Search...

Entry information

Entry name

FLCN_HUMAN

Accession

Primary (citable) accession number: Q8NFG4
Secondary accession number(s): A6NJJ8 , Q6ZRX1, Q96BD2, Q96BE4

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2006
Last sequence update:	October 1, 2002
Last modified:	January 25, 2012
This is version 73 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.