CGGBP1
CGG tripletni protein 1 vezan za ponavljanje jest protein koji je kod ljudi kodiran genom CGGBP1 sa hromosoma 3.[5][6][7]
Aminokiselinska sekvenca
Dužina polipeptidnog lanca je 167 aminokiselina, а molekulska težina 18.820 Da.[8]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MERFVVTAPP | ARNRSKTALY | VTPLDRVTEF | GGELHEDGGK | LFCTSCNVVL | ||||
| NHVRKSAISD | HLKSKTHTKR | KAEFEEQNVR | KKQRPLTASL | QCNSTAQTEK | ||||
| VSVIQDFVKM | CLEANIPLEK | ADHPAVRAFL | SRHVKNGGSI | PKSDQLRRAY | ||||
| LPDGYENENQ | LLNSQDC |
Funkcija
Postojanje CGG-vezujućeg faktora je prepoznato od 1990. godine, a protein su identificirali Deissler i kolege 1997. godine. Ima 167 aminokiselina i masu od 20 kDa i uključuje DNK -vezujući domen C2H2 cinkovog prsta. Ljudski gen nalazi se na hromosomu 3, na poziciji 3p11.1, odmah pored centromere, gdje ima četiri poznata promotora. Čini se da je CGGBP1 evoluirao iz hAT transpozona i nalazi se u svim amniotima.[9]
Protein se vezuje za trinukleotidno ponavljanje CGG, da bi regulirao transkripciju (uključujući inhibiciju Alu elementa) i translaciju. Neophodan je za opstanak ćelija, jer ima široke citoprotektivne funkcije uključujući popravak DNK i održavanje telomera. Budući da promotori gena uključuju ponavljanja CGG, on je samoregulirajući.[9]
CGGBP1 utiče na ekspresiju gena fragilnog X za mentalno zaostajanje, FMR1, specifičnom interakcijom sa CGG trinukleotidnim ponavljanjem u njegovom 5-prim UTR-u, neprevedenom regulatornom regionu uzvodno od kodirajuće sekvence gena.[7]
Reference
Dopunska literatura
- Meijer H, de Graaff E, Merckx DM, et al. (1994). "A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome". Hum. Mol. Genet. 3 (4): 615–20. doi:10.1093/hmg/3.4.615. PMID 8069307.
- Hornstra IK, Nelson DL, Warren ST, Yang TP (1994). "High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome". Hum. Mol. Genet. 2 (10): 1659–65. doi:10.1093/hmg/2.10.1659. PMID 8268919.
- Deissler H, Behn-Krappa A, Doerfler W (1996). "Purification of nuclear proteins from human HeLa cells that bind specifically to the unstable tandem repeat (CGG)n in the human FMR1 gene". J. Biol. Chem. 271 (8): 4327–34. doi:10.1074/jbc.271.8.4327. PMID 8626781.
- Müller-Hartmann H, Deissler H, Naumann F, et al. (2000). "The human 20-kDa 5'-(CGG)(n)-3'-binding protein is targeted to the nucleus and affects the activity of the FMR1 promoter". J. Biol. Chem. 275 (9): 6447–52. doi:10.1074/jbc.275.9.6447. PMID 10692448.
- Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
- Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
- Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Chen LS, Tassone F, Sahota P, Hagerman PJ (2004). "The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter". Hum. Mol. Genet. 12 (23): 3067–74. doi:10.1093/hmg/ddg331. PMID 14519687.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
- Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
Vanjski linkovi
- Lokacija ljudskog genoma CGGBP1 i stranica sa detaljima o genu CGGBP1 u UCSC Genome Browseru.