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Q8NFG4

- FLCN_HUMAN

UniProt

Q8NFG4 - FLCN_HUMAN

Protein

Folliculin

Gene

FLCN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 100 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    Functioni

    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 RPS6KB1.3 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. protein complex binding Source: UniProtKB

    GO - Biological processi

    1. cell-cell junction assembly Source: UniProtKB
    2. hemopoiesis Source: UniProtKB
    3. in utero embryonic development Source: UniProtKB
    4. negative regulation of ATP biosynthetic process Source: UniProtKB
    5. negative regulation of cell growth Source: UniProtKB
    6. negative regulation of cell migration Source: UniProtKB
    7. negative regulation of cell proliferation involved in kidney development Source: UniProtKB
    8. negative regulation of energy homeostasis Source: UniProtKB
    9. negative regulation of ERK1 and ERK2 cascade Source: UniProtKB
    10. negative regulation of gene expression Source: UniProtKB
    11. negative regulation of mitochondrion organization Source: UniProtKB
    12. negative regulation of protein kinase B signaling Source: UniProtKB
    13. negative regulation of protein localization to nucleus Source: UniProtKB
    14. negative regulation of Rho protein signal transduction Source: UniProtKB
    15. negative regulation of TOR signaling Source: UniProtKB
    16. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    17. positive regulation of apoptotic process Source: UniProtKB
    18. positive regulation of cell adhesion Source: UniProtKB
    19. positive regulation of gene expression Source: UniProtKB
    20. positive regulation of protein phosphorylation Source: UniProtKB
    21. positive regulation of TOR signaling Source: UniProtKB
    22. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    23. positive regulation of transforming growth factor beta receptor signaling pathway Source: UniProtKB
    24. regulation of cytokinesis Source: UniProtKB
    25. regulation of histone acetylation Source: UniProtKB
    26. regulation of pro-B cell differentiation Source: UniProtKB
    27. regulation of protein phosphorylation Source: UniProtKB
    28. regulation of TOR signaling Source: UniProtKB
    29. TOR signaling Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Folliculin
    Alternative name(s):
    BHD skin lesion fibrofolliculoma protein
    Birt-Hogg-Dube syndrome protein
    Gene namesi
    Name:FLCN
    Synonyms:BHD
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:27310. FLCN.

    Subcellular locationi

    Cytoplasm. Nucleus
    Note: Mainly localized in the nucleus. Colocalizes with FNIP1 and FNIP2 in the cytoplasm.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. nucleus Source: UniProtKB
    3. plasma membrane Source: HPA

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti108 – 1081S → I in BHD. 1 Publication
    VAR_066023
    Natural varianti508 – 5081K → R in BHD; does not impair protein stability, growth suppression activity or intracellular localization of folliculin. 1 Publication
    VAR_066029
    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti132 – 1321E → K in PSP. 1 Publication
    VAR_066024
    Natural varianti157 – 1571Missing in PSP; impaired protein stability. 1 Publication
    VAR_066025
    Natural varianti429 – 4291H → Y in PSP. 1 Publication
    VAR_066028
    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.1 Publication
    Note: The gene represented in this entry may be involved in disease pathogenesis.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti239 – 2391R → C in RCC; impaired protein stability. 1 Publication
    Corresponds to variant rs78683075 [ dbSNP | Ensembl ].
    VAR_066026

    Keywords - Diseasei

    Disease mutation, Tumor suppressor

    Organism-specific databases

    MIMi135150. phenotype.
    144700. phenotype.
    173600. phenotype.
    Orphaneti122. Birt-Hogg-Dube syndrome.
    2903. Familial spontaneous pneumothorax.
    PharmGKBiPA134901005.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 579579FolliculinPRO_0000223940Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei62 – 621Phosphoserine3 Publications
    Modified residuei73 – 731PhosphoserineBy similarity

    Post-translational modificationi

    Phosphorylated. Several different phosphorylated forms exist.3 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ8NFG4.
    PaxDbiQ8NFG4.
    PRIDEiQ8NFG4.

    PTM databases

    PhosphoSiteiQ8NFG4.

    Expressioni

    Tissue specificityi

    Expressed in most tissues tested, including skin, lung, kidney, heart, testis and stomach.1 Publication

    Developmental stagei

    Expressed in fetal lung, kidney, liver, and brain.1 Publication

    Gene expression databases

    ArrayExpressiQ8NFG4.
    BgeeiQ8NFG4.
    CleanExiHS_FLCN.
    GenevestigatoriQ8NFG4.

    Organism-specific databases

    HPAiCAB015158.
    HPA028760.

    Interactioni

    Subunit structurei

    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.3 Publications

    Protein-protein interaction databases

    BioGridi128366. 7 interactions.
    IntActiQ8NFG4. 4 interactions.
    STRINGi9606.ENSP00000285071.

    Structurei

    Secondary structure

    1
    579
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi349 – 3568
    Helixi358 – 37013
    Beta strandi373 – 3775
    Helixi381 – 39111
    Helixi392 – 3943
    Helixi397 – 3993
    Beta strandi402 – 4087
    Turni412 – 4143
    Beta strandi416 – 4205
    Helixi428 – 4314
    Beta strandi436 – 4438
    Beta strandi463 – 4697
    Helixi481 – 49111
    Helixi497 – 52125
    Helixi530 – 5389
    Helixi544 – 55310
    Helixi554 – 5563

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3V42X-ray2.00A/B341-566[»]
    ProteinModelPortaliQ8NFG4.
    SMRiQ8NFG4. Positions 343-558.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili287 – 31024Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the folliculin family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG319853.
    HOGENOMiHOG000052507.
    HOVERGENiHBG081531.
    InParanoidiQ8NFG4.
    KOiK09594.
    OMAiDENLWAC.
    PhylomeDBiQ8NFG4.
    TreeFamiTF315084.

    Family and domain databases

    InterProiIPR021713. Folliculin.
    [Graphical view]
    PANTHERiPTHR31441. PTHR31441. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NFG4-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MNAIVALCHF CELHGPRTLF CTEVLHAPLP QGDGNEDSPG QGEQAEEEEG    50
    GIQMNSRMRA HSPAEGASVE SSSPGPKKSD MCEGCRSLAA GHPGYISHDK 100
    ETSIKYVSHQ HPSHPQLFSI VRQACVRSLS CEVCPGREGP IFFGDEQHGF 150
    VFSHTFFIKD SLARGFQRWY SIITIMMDRI YLINSWPFLL GKVRGIIDEL 200
    QGKALKVFEA EQFGCPQRAQ RMNTAFTPFL HQRNGNAARS LTSLTSDDNL 250
    WACLHTSFAW LLKACGSRLT EKLLEGAPTE DTLVQMEKLA DLEEESESWD 300
    NSEAEEEEKA PVLPESTEGR ELTQGPAESS SLSGCGSWQP RKLPVFKSLR 350
    HMRQVLGAPS FRMLAWHVLM GNQVIWKSRD VDLVQSAFEV LRTMLPVGCV 400
    RIIPYSSQYE EAYRCNFLGL SPHVQIPPHV LSSEFAVIVE VHAAARSTLH 450
    PVGCEDDQSL SKYEFVVTSG SPVAADRVGP TILNKIEAAL TNQNLSVDVV 500
    DQCLVCLKEE WMNKVKVLFK FTKVDSRPKE DTQKLLSILG ASEEDNVKLL 550
    KFWMTGLSKT YKSHLMSTVR SPTASESRN 579
    Length:579
    Mass (Da):64,473
    Last modified:October 1, 2002 - v1
    Checksum:iE168EB34544C6336
    GO
    Isoform 2 (identifier: Q8NFG4-2) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:342
    Mass (Da):37,742
    Checksum:i3147596F8D7DF849
    GO
    Isoform 3 (identifier: Q8NFG4-3) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:197
    Mass (Da):20,877
    Checksum:i8B2D060B096D7F7B
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti79 – 791S → W in a sporadic colorectal carcinoma; somatic mutation. 1 Publication
    VAR_025356
    Natural varianti108 – 1081S → I in BHD. 1 Publication
    VAR_066023
    Natural varianti132 – 1321E → K in PSP. 1 Publication
    VAR_066024
    Natural varianti157 – 1571Missing in PSP; impaired protein stability. 1 Publication
    VAR_066025
    Natural varianti238 – 2381A → V in a renal cell carcinoma cell line. 1 Publication
    VAR_025357
    Natural varianti239 – 2391R → C in RCC; impaired protein stability. 1 Publication
    Corresponds to variant rs78683075 [ dbSNP | Ensembl ].
    VAR_066026
    Natural varianti320 – 3201R → Q in a primary colorectal cancer. 1 Publication
    VAR_025358
    Natural varianti362 – 3621R → C Found in a colorectal cell line; impaired protein stability. 1 Publication
    VAR_066027
    Natural varianti392 – 3921R → G in a primary colorectal cancer; somatic mutation. 1 Publication
    VAR_025359
    Natural varianti429 – 4291H → Y in PSP. 1 Publication
    VAR_066028
    Natural varianti444 – 4441A → S in a primary clear-cell renal cell carcinoma; somatic mutation. 1 Publication
    VAR_025360
    Natural varianti445 – 4451A → T in a sporadic colorectal carcinoma; somatic mutation. 1 Publication
    Corresponds to variant rs41419545 [ dbSNP | Ensembl ].
    VAR_025361
    Natural varianti508 – 5081K → R in BHD; does not impair protein stability, growth suppression activity or intracellular localization of folliculin. 1 Publication
    VAR_066029

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei134 – 19764CPGRE…VRGII → SLVATEPVSVGAHMLPGALG GLGASIAQGGRHWSSLRADP QISTAQGTGRLPCPELREES CWTC in isoform 3. 1 PublicationVSP_017312Add
    BLAST
    Alternative sequencei198 – 579382Missing in isoform 3. 1 PublicationVSP_017313Add
    BLAST
    Alternative sequencei291 – 34252DLEEE…WQPRK → GEAGVLLPGPWPGWPWGGTS CLLSWQESLREGNAALNQPR TSLREAHPPISV in isoform 2. 1 PublicationVSP_017314Add
    BLAST
    Alternative sequencei343 – 579237Missing in isoform 2. 1 PublicationVSP_017315Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS32579.1. [Q8NFG4-1]
    CCDS32580.1. [Q8NFG4-2]
    RefSeqiNP_653207.1. NM_144606.5. [Q8NFG4-2]
    NP_659434.2. NM_144997.5. [Q8NFG4-1]
    XP_005256572.1. XM_005256515.1. [Q8NFG4-1]
    UniGeneiHs.31652.

    Genome annotation databases

    EnsembliENST00000285071; ENSP00000285071; ENSG00000154803. [Q8NFG4-1]
    ENST00000389169; ENSP00000373821; ENSG00000154803. [Q8NFG4-2]
    GeneIDi201163.
    KEGGihsa:201163.
    UCSCiuc002gra.4. human. [Q8NFG4-1]
    uc002grb.4. human. [Q8NFG4-2]
    uc002grc.2. human. [Q8NFG4-3]

    Polymorphism databases

    DMDMi74751276.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    Leiden Open Variation Database

    Folliculin (FLCN)

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS32579.1. [Q8NFG4-1 ]
    CCDS32580.1. [Q8NFG4-2 ]
    RefSeqi NP_653207.1. NM_144606.5. [Q8NFG4-2 ]
    NP_659434.2. NM_144997.5. [Q8NFG4-1 ]
    XP_005256572.1. XM_005256515.1. [Q8NFG4-1 ]
    UniGenei Hs.31652.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3V42 X-ray 2.00 A/B 341-566 [» ]
    ProteinModelPortali Q8NFG4.
    SMRi Q8NFG4. Positions 343-558.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128366. 7 interactions.
    IntActi Q8NFG4. 4 interactions.
    STRINGi 9606.ENSP00000285071.

    PTM databases

    PhosphoSitei Q8NFG4.

    Polymorphism databases

    DMDMi 74751276.

    Proteomic databases

    MaxQBi Q8NFG4.
    PaxDbi Q8NFG4.
    PRIDEi Q8NFG4.

    Protocols and materials databases

    DNASUi 201163.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000285071 ; ENSP00000285071 ; ENSG00000154803 . [Q8NFG4-1 ]
    ENST00000389169 ; ENSP00000373821 ; ENSG00000154803 . [Q8NFG4-2 ]
    GeneIDi 201163.
    KEGGi hsa:201163.
    UCSCi uc002gra.4. human. [Q8NFG4-1 ]
    uc002grb.4. human. [Q8NFG4-2 ]
    uc002grc.2. human. [Q8NFG4-3 ]

    Organism-specific databases

    CTDi 201163.
    GeneCardsi GC17M017115.
    GeneReviewsi FLCN.
    HGNCi HGNC:27310. FLCN.
    HPAi CAB015158.
    HPA028760.
    MIMi 135150. phenotype.
    144700. phenotype.
    173600. phenotype.
    607273. gene.
    neXtProti NX_Q8NFG4.
    Orphaneti 122. Birt-Hogg-Dube syndrome.
    2903. Familial spontaneous pneumothorax.
    PharmGKBi PA134901005.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG319853.
    HOGENOMi HOG000052507.
    HOVERGENi HBG081531.
    InParanoidi Q8NFG4.
    KOi K09594.
    OMAi DENLWAC.
    PhylomeDBi Q8NFG4.
    TreeFami TF315084.

    Miscellaneous databases

    GeneWikii Folliculin.
    GenomeRNAii 201163.
    NextBioi 90061.
    PROi Q8NFG4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8NFG4.
    Bgeei Q8NFG4.
    CleanExi HS_FLCN.
    Genevestigatori Q8NFG4.

    Family and domain databases

    InterProi IPR021713. Folliculin.
    [Graphical view ]
    PANTHERi PTHR31441. PTHR31441. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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.
      , 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.
      , 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. 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. 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. 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. Cited for: VARIANT CYS-362, CHARACTERIZATION OF VARIANTS PHE-157 DEL; CYS-239; CYS-362 AND ARG-508.

    Entry informationi

    Entry nameiFLCN_HUMAN
    AccessioniPrimary (citable) accession number: Q8NFG4
    Secondary accession number(s): A6NJJ8
    , Q6ZRX1, Q96BD2, Q96BE4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2006
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 100 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3