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Q8NFG4

- FLCN_HUMAN

UniProt

Q8NFG4 - FLCN_HUMAN

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Protein

Folliculin

Gene

FLCN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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 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
Complete GO annotation...

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
Complete GO annotation...

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 – 621Phosphoserine2 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

BgeeiQ8NFG4.
CleanExiHS_FLCN.
ExpressionAtlasiQ8NFG4. baseline and differential.
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. 8 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.
GeneTreeiENSGT00390000009864.
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) [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

        10         20         30         40         50
MNAIVALCHF CELHGPRTLF CTEVLHAPLP QGDGNEDSPG QGEQAEEEEG
60 70 80 90 100
GIQMNSRMRA HSPAEGASVE SSSPGPKKSD MCEGCRSLAA GHPGYISHDK
110 120 130 140 150
ETSIKYVSHQ HPSHPQLFSI VRQACVRSLS CEVCPGREGP IFFGDEQHGF
160 170 180 190 200
VFSHTFFIKD SLARGFQRWY SIITIMMDRI YLINSWPFLL GKVRGIIDEL
210 220 230 240 250
QGKALKVFEA EQFGCPQRAQ RMNTAFTPFL HQRNGNAARS LTSLTSDDNL
260 270 280 290 300
WACLHTSFAW LLKACGSRLT EKLLEGAPTE DTLVQMEKLA DLEEESESWD
310 320 330 340 350
NSEAEEEEKA PVLPESTEGR ELTQGPAESS SLSGCGSWQP RKLPVFKSLR
360 370 380 390 400
HMRQVLGAPS FRMLAWHVLM GNQVIWKSRD VDLVQSAFEV LRTMLPVGCV
410 420 430 440 450
RIIPYSSQYE EAYRCNFLGL SPHVQIPPHV LSSEFAVIVE VHAAARSTLH
460 470 480 490 500
PVGCEDDQSL SKYEFVVTSG SPVAADRVGP TILNKIEAAL TNQNLSVDVV
510 520 530 540 550
DQCLVCLKEE WMNKVKVLFK FTKVDSRPKE DTQKLLSILG ASEEDNVKLL
560 570
KFWMTGLSKT YKSHLMSTVR SPTASESRN
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. 8 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.
GeneTreei ENSGT00390000009864.
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

Bgeei Q8NFG4.
CleanExi HS_FLCN.
ExpressionAtlasi Q8NFG4. baseline and differential.
Genevestigatori Q8NFG4.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 101 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

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