FLCN

FLCN
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	3V42
Identifikatori
Aliasi	FLCN
Vanjski ID-jevi	OMIM: 607273 MGI: 2442184 HomoloGene: 14583 GeneCards: FLCN
Lokacija gena (čovjek)
Hrom.	Hromosom 17 (čovjek)
Kraj	17,237,188 bp
Lokacija gena (miš)
Hrom.	Hromosom 11 (miš)
Kraj	59,700,842 bp
Ontologija gena
Molekularna funkcija	• guanyl-nucleotide exchange factor activity; • GO:0001948, GO:0016582 vezivanje za proteine; • GO:0032403 protein-containing complex binding;
Ćelijska komponenta	• citoplazma; • cell-cell contact zone; • ćelijska membrana; • midbody; • Lizozom; • jedro; • citosol; • Treplja;
Biološki proces	• regulation of protein phosphorylation; • negative regulation of protein localization to nucleus; • regulation of cytokinesis; • positive regulation of autophagy; • negative regulation of Rho protein signal transduction; • negative regulation of cell migration; • TOR signaling; • negative regulation of cell growth; • positive regulation of apoptotic process; • positive regulation of cell adhesion; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II; • GO:1901227 negative regulation of transcription by RNA polymerase II; • in utero embryonic development; • positive regulation of protein phosphorylation; • cell-cell junction assembly; • negative regulation of gene expression; • negative regulation of mitochondrion organization; • positive regulation of transforming growth factor beta receptor signaling pathway; • regulation of TOR signaling; • negative regulation of TOR signaling; • positive regulation of TOR signaling; • regulation of histone acetylation; • negative regulation of protein kinase B signaling; • negative regulation of ERK1 and ERK2 cascade; • negative regulation of cell proliferation involved in kidney development; • regulation of pro-B cell differentiation; • negative regulation of ATP biosynthetic process; • Hematopoeza; • energy homeostasis; • mitochondrion organization; • GO:0045996 negative regulation of transcription, DNA-templated; • negative regulation of cold-induced thermogenesis; • negative regulation of cellular respiration; • negative regulation of mitochondrial DNA metabolic process; • negative regulation of muscle tissue development; • negative regulation of post-translational protein modification; • positive regulation of intrinsic apoptotic signaling pathway;
	Izvori:Amigo / QuickGO
Ortolozi
	201163
	216805
	ENSG00000154803
	ENSMUSG00000032633
	Q8NFG4
	Q8QZS3
	NM_144606; NM_144997; NM_001353229; NM_001353230; NM_001353231
	NM_001271356; NM_001271357; NM_146018
	NP_653207; NP_659434; NP_001340158; NP_001340159; NP_001340160
	NP_001258285; NP_001258286; NP_666130
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Folikulin, znan i kao FLCN, protein Birt-Hogg-Dubéovog sindroma je protein koji je kod ljudi pridružen Birt-Hogg-Dubéovom sindromu i nasljednom spontanom pneumotoraksu. Kodiran je genom FLCN (BHD, FLCL) koji djeluje kao genski supresor tumora. Supresori tumora pomažu u kontroli rasta i diobe ćelija.

Gen FLCN sastoji se od 14 egzona.^[5]

Citogenetska lokacija: Gen FLCN nalazi se na kratkom (p) kraku hromosoma 17, na položaju 11.2. (17p11.2).^[6]

Molekulska lokacija na hromosomu 17: parovi baza 17.056.252 do 17.081.230 (NCI Build 36.1).

Aminokselinska sekvenca

Dužina polipeptidnog lanca je 579 aminokiselina, a molekulska težina 64.473 Da.^[7].

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

10	20	30	40	50
MNAIVALCHF	CELHGPRTLF	CTEVLHAPLP	QGDGNEDSPG	QGEQAEEEEG
GIQMNSRMRA	HSPAEGASVE	SSSPGPKKSD	MCEGCRSLAA	GHPGYISHDK
ETSIKYVSHQ	HPSHPQLFSI	VRQACVRSLS	CEVCPGREGP	IFFGDEQHGF
VFSHTFFIKD	SLARGFQRWY	SIITIMMDRI	YLINSWPFLL	GKVRGIIDEL
QGKALKVFEA	EQFGCPQRAQ	RMNTAFTPFL	HQRNGNAARS	LTSLTSDDNL
WACLHTSFAW	LLKACGSRLT	EKLLEGAPTE	DTLVQMEKLA	DLEEESESWD
NSEAEEEEKA	PVLPESTEGR	ELTQGPAESS	SLSGCGSWQP	RKLPVFKSLR
HMRQVLGAPS	FRMLAWHVLM	GNQVIWKSRD	VDLVQSAFEV	LRTMLPVGCV
RIIPYSSQYE	EAYRCNFLGL	SPHVQIPPHV	LSSEFAVIVE	VHAAARSTLH
PVGCEDDQSL	SKYEFVVTSG	SPVAADRVGP	TILNKIEAAL	TNQNLSVDVV
DQCLVCLKEE	WMNKVKVLFK	FTKVDSRPKE	DTQKLLSILG	ASEEDNVKLL
KFWMTGLSKT	YKSHLMSTVR	SPTASESRN

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000154803 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000032633 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, et al. (august 2002). "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-Dubé syndrome". Cancer Cell. 2 (2): 157–64. doi:10.1016/S1535-6108(02)00104-6. PMID 12204536.
^ "Folliculin". Genetics Home Reference
^ "UniProt, Q8NFG4". Pristupljeno June 15, 2021.

Dopunska literatura

Schmidt LS, Linehan WM (oktobar 2015). "Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome". Nature Reviews. Urology. 12 (10): 558–69. doi:10.1038/nrurol.2015.206. PMC 5119524. PMID 26334087.
Tee AR, Pause A (septembar 2013). "Birt-Hogg-Dubé: tumour suppressor function and signalling dynamics central to folliculin". Familial Cancer. 12 (3): 367–72. doi:10.1007/s10689-012-9576-9. PMID 23096221. S2CID 15253962.

Vanjski linkovi

FLCN protein, human na US National Library of Medicine Medical Subject Headings (MeSH)
The BHD Foundation Arhivirano 11. 6. 2021. na Wayback Machine supports research into BHD syndrome and maintains the world's first website dedicated to BHD syndrome - BHDSyndrome.org
Human Folliculin variants Arhivirano 4. 3. 2016. na Wayback Machine, listing maintained by the European Birt-Hogg-Dube Consortium.
Q8NFG4

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000154803 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000032633 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid12204536-5] Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, et al. (august 2002). "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-Dubé syndrome". Cancer Cell. 2 (2): 157–64. doi:10.1016/S1535-6108(02)00104-6. PMID 12204536.

[:0-6] "Folliculin". Genetics Home Reference

[UniProt-7] "UniProt, Q8NFG4". Pristupljeno June 15, 2021.

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