SF3B5

SF3B5
Identifikatori
Aliasi	SF3B5
Vanjski ID-jevi	OMIM: 617847 MGI: 1913375 HomoloGene: 41825 GeneCards: SF3B5
Lokacija gena (čovjek)
Hrom.	Hromosom 6 (čovjek)
Kraj	144,095,573 bp
Lokacija gena (miš)
Hrom.	Hromosom 10 (miš)
Kraj	12,884,927 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• RNA binding;
Ćelijska komponenta	• U12-type spliceosomal complex; • spliceosomal complex; • precatalytic spliceosome; • Jedro; • U2 snRNP; • Nukleoplazma; • U2-type precatalytic spliceosome;
Biološki proces	• mRNA processing; • Prerada RNK; • mRNA splicing, via spliceosome;
	Izvori:Amigo / QuickGO
Ortolozi
	83443
	66125
	ENSG00000169976
	ENSMUSG00000078348
	Q9BWJ5
	Q923D4
	NM_031287
	NM_175102
	NP_112577
	NP_780311
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Podjedinica 5 splajsing faktora 3B jest protein koji je kod ljudi kodiran genom SF3B5.^[5]^[6]

Pladienolid, herboksidien i spajsostatin identificirani su kao modulatori prerade RNK koji ciljaju SF3B u potkompleksu SF3b. U jednom radu iz 2017. izvješteno je da je PHF5A, još jedna komponenta ovog potkompleksa, također meta ovih spojeva. Mutacije u PHF5A-Y36, SF3B -K 07 , SF3B -R 074 i SF3B -V 078 daju otpor ovim modulatorima, što ukazuje na zajedničko mjesto interakcije. RNK-seq analiza otkriva da PHF5A-Y36C ima minimalan učinak na baznu preradu, ali inhibira globalno djelovanje modulatora prerade. Štaviše, PHF5A-Y36C mijenja profil zadržavanja introna induciranog splajsingom/preskakanjem egzona, koji je povezan sa diferencijalnim sadržajem GC-a između susjednih introna i egzona.

Određena je kristalna struktura ljudskog PHF5A, pokazujući da se Y36 nalazi u visoko konzerviranoj regiji. Analiza krio-EM splajsosomskog kompleksa Bact pokazuje da se rezistencijske mutacije grupiraju u džepu koji okružuje adenozinske tačke grananja, što ukazuje na konkurentan način djelovanja. Zajedno, predloženo je da PHF5A-SF3B čini centralni čvor za vezivanje za ove modulatore splajsinga.^[7]

Aminokiselinska sekvencaUredi

Dužina polipeptidnog lanca je 86 aminokiselina, а molekulska težina 0,35 Da.^[8]

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

=

0		20		30		40		50
MTDRYTIHSQ		LEHLQSKYIG		TGHADTTKWE		WLVNQHRDSY		CSYMGHFDLL
NYFAIAENES		KARVRFNLME		KMLQPCGPPA		DKPEEN

ReferenceUredi

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000169976 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000078348 - 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.
^ Will CL, Urlaub H, Achsel T, Gentzel M, Wilm M, Luhrmann R (Sep 2002). "Characterization of novel SF3b and 17S U2 snRNP proteins, including a human Prp5p homologue and an SF3b DEAD-box protein". EMBO J. 21 (18): 4978–88. doi:10.1093/emboj/cdf480. PMC 126279. PMID 12234937.
^ "Entrez Gene: SF3B5 splicing factor 3b, subunit 5, 10kDa".
^ Teng Teng, Jennifer Hc Tsai, Xiaoling Puyang, Michael Seiler, Shouyong Peng, Sudeep Prajapati, Daniel Aird, Silvia Buonamici, Benjamin Caleb, Betty Chan, Laura Corson, Jacob Feala, Peter Fekkes, Baudouin Gerard, Craig Karr, Manav Korpal, Xiang Liu, Jason T Lowe, Yoshiharu Mizui, James Palacino, Eunice Park, Peter G Smith, Vanitha Subramanian, Zhenhua Jeremy Wu, Jian Zou, Lihua Yu , Agustin Chicas, Markus Warmuth, Nicholas Larsen, Ping Zhu (2017): Splicing modulators act at the branch point adenosine binding pocket defined by the PHF5A-SF3b complex. Nat Commun, 25(8): 5522; pmid: 2854 300: pmcid: pmc54585 9; doi: 0. 038/ncomms 5522
^ "UniProt, Q9BWJ5" (jezik: engleski). Pristupljeno 10. 10. 2021.

Dopunska literaturaUredi

Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D4 5–8. doi:0. 093/nar/gkj 39 Provjerite vrijednost parametra |doi= (pomoć). PMC 34750. PMID 90 638 90 Provjerite vrijednost parametra |pmid= (pomoć).
Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 4 (0B): 2 36–44. doi:0. 0 /gr.2576704 Provjerite vrijednost parametra |doi= (pomoć). PMC 528930. PMID 5489336.
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. 4 (0B): 2 2 –7. doi:0. 0 /gr.2596504 Provjerite vrijednost parametra |doi= (pomoć). PMC 528928. PMID 5489334.
Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–. Bibcode:2003Natur.425..805M. doi:0. 038/nature02055 Provjerite vrijednost parametra |doi= (pomoć). PMID 4574404.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 5,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 6899–903. doi:0. 073/pnas.242603899 Provjerite vrijednost parametra |doi= (pomoć). PMC 3924. PMID 2477932.
Simpson JC, Wellenreuther R, Poustka A, et al. (200). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. (3): 287–92. doi:0. 093/embo-reports/kvd058 Provjerite vrijednost parametra |doi= (pomoć). PMC 83732. PMID 4 2566 4 Provjerite vrijednost parametra |pmid= (pomoć).
Hartley JL, Temple GF, Brasch MA (200). "DNA cloning using in vitro site-specific recombination". Genome Res. 0: 788–95. doi:0. 0 /gr. 43000 Provjerite vrijednost parametra |doi= (pomoć). PMC 3 0948 Provjerite vrijednost parametra |pmc= (pomoć). PMID 076863.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000169976 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000078348 - 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.

[pmid12234937-5] Will CL, Urlaub H, Achsel T, Gentzel M, Wilm M, Luhrmann R (Sep 2002). "Characterization of novel SF3b and 17S U2 snRNP proteins, including a human Prp5p homologue and an SF3b DEAD-box protein". EMBO J. 21 (18): 4978–88. doi:10.1093/emboj/cdf480. PMC 126279. PMID 12234937.

[entrez-6] "Entrez Gene: SF3B5 splicing factor 3b, subunit 5, 10kDa".

[7] Teng Teng, Jennifer Hc Tsai, Xiaoling Puyang, Michael Seiler, Shouyong Peng, Sudeep Prajapati, Daniel Aird, Silvia Buonamici, Benjamin Caleb, Betty Chan, Laura Corson, Jacob Feala, Peter Fekkes, Baudouin Gerard, Craig Karr, Manav Korpal, Xiang Liu, Jason T Lowe, Yoshiharu Mizui, James Palacino, Eunice Park, Peter G Smith, Vanitha Subramanian, Zhenhua Jeremy Wu, Jian Zou, Lihua Yu , Agustin Chicas, Markus Warmuth, Nicholas Larsen, Ping Zhu (2017): Splicing modulators act at the branch point adenosine binding pocket defined by the PHF5A-SF3b complex. Nat Commun, 25(8): 5522; pmid: 2854 300: pmcid: pmc54585 9; doi: 0. 038/ncomms 5522

[UniProt-8] "UniProt, Q9BWJ5" (jezik: engleski). Pristupljeno 10. 10. 2021.

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