Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q8NFG4 (FLCN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Folliculin
Alternative name(s):
BHD skin lesion fibrofolliculoma protein
Birt-Hogg-Dube syndrome protein
Gene names
Name:FLCN
Synonyms:BHD
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length579 AA.
Sequence statusComplete.
Protein existenceEvidence 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. Colocalizes 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

Involvement in disease

Birt-Hogg-Dube syndrome (BHD) [MIM:135150]: A rare autosomal dominant genodermatosis characterized by hair follicle hamartomas (fibrofolliculomas), kidney tumors, and spontaneous pneumothorax. Fibrofolliculomas are part of the triad of Birt-Hogg-Dube syndrome skin lesions that also includes trichodiscomas and acrochordons. Onset of this dermatologic condition is invariably in adulthood. Birt-Hogg-Dube syndrome 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 Birt-Hogg-Dube syndrome patients.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.19 Ref.20

Primary spontaneous pneumothorax (PSP) [MIM:173600]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.17 Ref.18

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.
Note: The gene represented in this entry may be involved in disease pathogenesis. Ref.16

Sequence similarities

Belongs to the folliculin family.

Ontologies

Keywords
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
Tumor suppressor
   DomainCoiled coil
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processTOR signaling

Inferred from mutant phenotype Ref.10. Source: UniProtKB

cell-cell junction assembly

Inferred from sequence or structural similarity. Source: UniProtKB

hemopoiesis

Inferred from sequence or structural similarity. Source: UniProtKB

in utero embryonic development

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of ATP biosynthetic process

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of ERK1 and ERK2 cascade

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of Rho protein signal transduction

Inferred from mutant phenotype PubMed 22965878. Source: UniProtKB

negative regulation of TOR signaling

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of cell growth

Inferred from direct assay PubMed 20573232. Source: UniProtKB

negative regulation of cell migration

Inferred from mutant phenotype PubMed 22965878. Source: UniProtKB

negative regulation of cell proliferation involved in kidney development

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of energy homeostasis

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of gene expression

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of mitochondrion organization

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of protein kinase B signaling

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of protein localization to nucleus

Inferred from direct assay PubMed 21209915. Source: UniProtKB

negative regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 20573232. Source: UniProtKB

positive regulation of TOR signaling

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of apoptotic process

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of cell adhesion

Inferred from mutant phenotype PubMed 21209915. Source: UniProtKB

positive regulation of gene expression

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of protein phosphorylation

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 20573232. Source: UniProtKB

positive regulation of transforming growth factor beta receptor signaling pathway

Inferred from direct assay PubMed 20573232. Source: UniProtKB

regulation of TOR signaling

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of cytokinesis

Inferred from mutant phenotype PubMed 22965878. Source: UniProtKB

regulation of histone acetylation

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of pro-B cell differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of protein phosphorylation

Inferred from direct assay Ref.12. Source: UniProtKB

   Cellular_componentcytoplasm

Inferred from direct assay Ref.10Ref.12PubMed 22965878. Source: UniProtKB

nucleus

Inferred from direct assay Ref.10Ref.12. Source: UniProtKB

plasma membrane

Inferred from direct assay. Source: HPA

   Molecular_functionprotein complex binding

Inferred from direct assay Ref.10. 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 579579Folliculin
PRO_0000223940

Regions

Coiled coil287 – 31024 Potential

Amino acid modifications

Modified residue621Phosphoserine Ref.13 Ref.15
Modified residue731Phosphoserine By similarity

Natural variations

Alternative sequence134 – 19764CPGRE…VRGII → SLVATEPVSVGAHMLPGALG GLGASIAQGGRHWSSLRADP QISTAQGTGRLPCPELREES CWTC in isoform 3.
VSP_017312
Alternative sequence198 – 579382Missing in isoform 3.
VSP_017313
Alternative sequence291 – 34252DLEEE…WQPRK → GEAGVLLPGPWPGWPWGGTS CLLSWQESLREGNAALNQPR TSLREAHPPISV in isoform 2.
VSP_017314
Alternative sequence343 – 579237Missing in isoform 2.
VSP_017315
Natural variant791S → W in a sporadic colorectal carcinoma; somatic mutation.
VAR_025356
Natural variant1081S → I in BHD. Ref.20
VAR_066023
Natural variant1321E → K in PSP. Ref.18
VAR_066024
Natural variant1571Missing in PSP; impaired protein stability. Ref.17 Ref.21
VAR_066025
Natural variant2381A → V in a renal cell carcinoma cell line. Ref.7
VAR_025357
Natural variant2391R → C in RCC; impaired protein stability. Ref.16 Ref.21
Corresponds to variant rs78683075 [ dbSNP | Ensembl ].
VAR_066026
Natural variant3201R → Q in a primary colorectal cancer. Ref.7
VAR_025358
Natural variant3621R → C Found in a colorectal cell line; impaired protein stability. Ref.21
VAR_066027
Natural variant3921R → G in a primary colorectal cancer; somatic mutation. Ref.7
VAR_025359
Natural variant4291H → Y in PSP. Ref.17
VAR_066028
Natural variant4441A → S in a primary clear-cell renal cell carcinoma; somatic mutation. Ref.7
VAR_025360
Natural variant4451A → T in a sporadic colorectal carcinoma; somatic mutation.
Corresponds to variant rs41419545 [ dbSNP | Ensembl ].
VAR_025361
Natural variant5081K → R in BHD; does not impair protein stability, growth suppression activity or intracellular localization of folliculin. Ref.19 Ref.21
VAR_066029

Secondary structure

................................. 579
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: E168EB34544C6336

FASTA57964,473
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 3147596F8D7DF849
Show »

FASTA34237,742
Isoform 3 [UniParc].

Checksum: 8B2D060B096D7F7B
Show »

FASTA19720,877

References

« Hide '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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-62, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[15]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-62, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[16]"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] [Europe PMC] [Abstract]
Cited for: VARIANT RCC CYS-239.
[17]"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] [Europe PMC] [Abstract]
Cited for: VARIANTS PSP PHE-157 DEL AND TYR-429.
[18]"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] [Europe PMC] [Abstract]
Cited for: VARIANT PSP LYS-132.
[19]"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] [Europe PMC] [Abstract]
Cited for: VARIANT BHD ARG-508.
[20]"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] [Europe PMC] [Abstract]
Cited for: VARIANT BHD ILE-108.
[21]"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] [Europe PMC] [Abstract]
Cited for: VARIANT CYS-362, CHARACTERIZATION OF VARIANTS PHE-157 DEL; CYS-239; CYS-362 AND ARG-508.
+Additional computationally mapped references.

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.
RefSeqNP_653207.1. NM_144606.5.
NP_659434.2. NM_144997.5.
XP_005256572.1. XM_005256515.1.
UniGeneHs.31652.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3V42X-ray2.00A/B341-566[»]
ProteinModelPortalQ8NFG4.
SMRQ8NFG4. Positions 343-558.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128366. 7 interactions.
IntActQ8NFG4. 4 interactions.
STRING9606.ENSP00000285071.

PTM databases

PhosphoSiteQ8NFG4.

Polymorphism databases

DMDM74751276.

Proteomic databases

PaxDbQ8NFG4.
PRIDEQ8NFG4.

Protocols and materials databases

DNASU201163.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000285071; ENSP00000285071; ENSG00000154803. [Q8NFG4-1]
ENST00000389169; ENSP00000373821; ENSG00000154803. [Q8NFG4-2]
GeneID201163.
KEGGhsa:201163.
UCSCuc002gra.4. human. [Q8NFG4-1]
uc002grb.4. human. [Q8NFG4-2]
uc002grc.2. human. [Q8NFG4-3]

Organism-specific databases

CTD201163.
GeneCardsGC17M017115.
HGNCHGNC:27310. FLCN.
HPACAB015158.
HPA028760.
MIM135150. phenotype.
144700. phenotype.
173600. phenotype.
607273. gene.
neXtProtNX_Q8NFG4.
Orphanet122. Birt-Hogg-Dube syndrome.
2903. Familial spontaneous pneumothorax.
PharmGKBPA134901005.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG319853.
HOGENOMHOG000052507.
HOVERGENHBG081531.
InParanoidQ8NFG4.
KOK09594.
OMAPQGAGNG.
PhylomeDBQ8NFG4.
TreeFamTF315084.

Gene expression databases

ArrayExpressQ8NFG4.
BgeeQ8NFG4.
CleanExHS_FLCN.
GenevestigatorQ8NFG4.

Family and domain databases

InterProIPR021713. Folliculin.
[Graphical view]
PfamPF11704. Folliculin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiFolliculin.
GenomeRNAi201163.
NextBio90061.
PROQ8NFG4.
SOURCESearch...

Entry information

Entry nameFLCN_HUMAN
AccessionPrimary (citable) accession number: Q8NFG4
Secondary accession number(s): A6NJJ8 expand/collapse secondary AC list , Q6ZRX1, Q96BD2, Q96BE4
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2006
Last sequence update: October 1, 2002
Last modified: April 16, 2014
This is version 95 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM