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.

FLCN
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

3V42

Identifikatori
AliasiFLCN
Vanjski ID-jeviOMIM: 607273 MGI: 2442184 HomoloGene: 14583 GeneCards: FLCN
Lokacija gena (čovjek)
Hromosom 17 (čovjek)
Hrom.Hromosom 17 (čovjek)[1]
Hromosom 17 (čovjek)
Genomska lokacija za FLCN
Genomska lokacija za FLCN
Bend17p11.2Početak17,212,212 bp[1]
Kraj17,237,188 bp[1]
Lokacija gena (miš)
Hromosom 11 (miš)
Hrom.Hromosom 11 (miš)[2]
Hromosom 11 (miš)
Genomska lokacija za FLCN
Genomska lokacija za FLCN
Bend11|11 B1.3Početak59,682,234 bp[2]
Kraj59,700,842 bp[2]
Ontologija gena
Molekularna funkcija guanyl-nucleotide exchange factor activity
GO:0001948, GO:0016582 protein binding
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
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_144606
NM_144997
NM_001353229
NM_001353230
NM_001353231

NM_001271356
NM_001271357
NM_146018

RefSeq (bjelančevina)

NP_653207
NP_659434
NP_001340158
NP_001340159
NP_001340160

NP_001258285
NP_001258286
NP_666130

Lokacija (UCSC)Chr 17: 17.21 – 17.24 MbChr 11: 59.68 – 59.7 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

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 uredi

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

Simboli
1020304050
MNAIVALCHFCELHGPRTLFCTEVLHAPLPQGDGNEDSPGQGEQAEEEEG
GIQMNSRMRAHSPAEGASVESSSPGPKKSDMCEGCRSLAAGHPGYISHDK
ETSIKYVSHQHPSHPQLFSIVRQACVRSLSCEVCPGREGPIFFGDEQHGF
VFSHTFFIKDSLARGFQRWYSIITIMMDRIYLINSWPFLLGKVRGIIDEL
QGKALKVFEAEQFGCPQRAQRMNTAFTPFLHQRNGNAARSLTSLTSDDNL
WACLHTSFAWLLKACGSRLTEKLLEGAPTEDTLVQMEKLADLEEESESWD
NSEAEEEEKAPVLPESTEGRELTQGPAESSSLSGCGSWQPRKLPVFKSLR
HMRQVLGAPSFRMLAWHVLMGNQVIWKSRDVDLVQSAFEVLRTMLPVGCV
RIIPYSSQYEEAYRCNFLGLSPHVQIPPHVLSSEFAVIVEVHAAARSTLH
PVGCEDDQSLSKYEFVVTSGSPVAADRVGPTILNKIEAALTNQNLSVDVV
DQCLVCLKEEWMNKVKVLFKFTKVDSRPKEDTQKLLSILGASEEDNVKLL
KFWMTGLSKTYKSHLMSTVRSPTASESRN

Reference uredi

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000154803 - Ensembl, maj 2017
  2. ^ a b c 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.
  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.
  6. ^ "Folliculin". Genetics Home Reference
  7. ^ "UniProt, Q8NFG4". Pristupljeno June 15, 2021.

Dopunska literatura uredi

Vanjski linkovi uredi