RTF1

RTF2
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2BZE, 2DB9, 3U1U, 4L1P, 4L1U
Identifikatori
Aliasi	RTF1
Vanjski ID-jevi	OMIM: 611633 MGI: 1309480 HomoloGene: 133868 GeneCards: RTF1
Lokacija gena (čovjek)
Hrom.	Hromosom 15 (čovjek)
Kraj	41,483,563 bp
Lokacija gena (miš)
Hrom.	Hromosom 2 (miš)
Kraj	119,735,407 bp
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • single-stranded DNA binding; • vezivanje sa DNK; • RNA polymerase II C-terminal domain phosphoserine binding; • vezivanje sa RNK;
Ćelijska komponenta	• Jedarce; • jedro; • Cdc73/Paf1 complex; • nukleoplazma;
Biološki proces	• blastocyst growth; • GO:0071110, GO:0036413, GO:0036414 histone modification; • GO:0009373 regulation of transcription, DNA-templated; • positive regulation of transcription elongation from RNA polymerase II promoter; • histone H3-K4 trimethylation; • positive regulation of histone H3-K4 methylation; • transcription, DNA-templated; • Wnt-signalni put; • 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; • stem cell population maintenance; • endodermal cell fate commitment; • transcription by RNA polymerase II; • transcription elongation from RNA polymerase II promoter; • protein ubiquitination;
	Izvori:Amigo / QuickGO
Ortolozi
	23168
	76246
	ENSG00000137815
	ENSMUSG00000027304
	Q92541
	A2AQ19
	NM_015138
	NM_030112
	NP_055953
	NP_084388
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Rtf1, kompleksna komponenta Paf1/RNK-polimeraze II, homolog (S. cerevisiae) je protein lkoji je kod ljudi kodiran genom RTF1.^[5]

Sekvenciranjem klonova dobivenih iz biblioteke cDNK nezrelih mijeloidnih ćelija frakcionirane veličine, Nagase et al. (1996) klonirali RTF1, koji su označili KIAA0252. Northern blot analizom otkrivena je visoka ekspresija u skeletnim mišićima i umjerena ekspresija u svim ostalim ispitivanim tkivima i ćelijskim linijama.Pretragom baza podataka za homologe kvasca Rtf1, Warner et al. (2007) identificirali su ljudski RTF1. Izvedeni protein sadrži 585 aminokiselina. Dvije skupine aminokiselina, uključujući 26 invarijantnih ostataka, visoko su konzervirane u ljudskom, kvaščevom i nematodnom RTF1.

Warner et al. (2007) pokazali su da je kvaščeva Rtf1 komponenta kompleksa Paf1, koji regulira ekspresiju gena usmjeravanjem kotranskripcijske modifikacije histona. Hibridnom analizom zračenja, Nagase et al. (1996) mapirali su gen RTF1 na hromosomu 15.^[6]^[7]

Ovaj lokus može predstavljati gen koji je uključen u regulaciju produženja transkripcije i preoblikovanje hromatina, na osnovu studija sličnih proteina u drugim organizmima. Kodirani protein može vezati jednolančanu DNK.^[5]

Model organisms

Fenotip nokaut-miša *Rtf1*
Svojstvo	Fenotip
Vijabilnost homozigota	Nenormalno
Studija recesivne letalnosti	Nenormalno
Plodnost	Normalno
Tjelesna težina	Normalno
Test otvorenog polja: anksioznost	Normalno
Neurološka procjena	Normalno
Snaga stiska	Normalno
Test vruće ploče	Normalno
Dismorfologija	Normalno
Indirektna kalorimetrija	Normalno
Test tolerancije glukoze	Normalno
Slušni odgovor moždanog stabla	Normalno
DEXA	Normalno
Radiografija	Nenormalno
Tjelesna temperatura	Normalno
Morfologija ika	Normalno
Klinička hemija (nalaz)	Normalno
Plazmatski imunoglobulini	Normalno
Hematologija	Normalno
Leukociti periferne krvi	Normalno
Mikronukleus test	Normalno
Težina srca	Normalno
Histopatologija oka	Normalno
Salmonella infekcija	Normal^[8]
Citrobacter infekcija	Normal^[9]
Svi testovi i analize su iz ^[10]^[11]

U proučavanju PNPO funkcije, korišteni su modelni organizmi. Uvjetna linija nokaut-miševa, zvana Rtf1^[12]^[13] generirana je kao dio programa Međunarosnog konzorcija za miševe – visokopropusnog projekta mutageneze za generiranje i distribuciju životinjskih modela bolesti zainteresiranim naučnicima.^[14]^[15]^[16]

Muške i ženske životinje prolazile su standardizirani fenotipski skrining, kako bi se utvrdili efekti delecije.^[10]^[17] Od 24 izvedena testa ina mutantnim miševima, uočene su dvije značajne abnormalnosti.^[10] Tokom gestacije, utvrđens su tri značajne abnormalnosti kod ovih životinja.^[10] Nijedan homozigotni mutantni embrion nije identifikovan tokom gestacije, pa stoga nijedan nije doživio do odvikavanja. Preostali testovi su izvedeni na heterozigotnim mutiranim odraslim miševima; fuzija kičmenih pršljenova uočena je kod muških životinja.^[10]

Reference

1 2 3 GRCh38: Ensembl release 89: ENSG00000137815 - Ensembl, maj 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027304 - 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.
1 2 "Entrez Gene: Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)". Pristupljeno 20. 9. 2011.
↑ Nagase, T., Seki, N., Ishikawa, K., Ohira, M., Kawarabayasi, Y., Ohara, O., Tanaka, A., Kotani, H., Miyajima, N., Nomura, N. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. DNA Res. 3: 321-329, 1996. PubMed: 9039502
↑ Warner, M. H., Roinick, K. L., Arndt, K. M. Rtf1 is a multifunctional component of the Paf1 complex that regulates gene expression by directing cotranscriptional histone modification. Molec. Cell. Biol. 27: 6103-6115, 2007. PubMed: 17576814
↑ "Salmonella infection data for Pnpo". Wellcome Trust Sanger Institute.
↑ "Citrobacter infection data for Pnpo". Wellcome Trust Sanger Institute.
1 2 3 4 5 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
↑ "International Knockout Mouse Consortium". Arhivirano s originala, 3. 4. 2012. Pristupljeno 18. 7. 2021.
↑ "Mouse Genome Informatics".
↑ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
↑ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
↑ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
↑ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Dopunska literatura

Rozenblatt-Rosen, O.; Hughes, C. M.; Nannepaga, S. J.; Shanmugam, K. S.; Copeland, T. D.; Guszczynski, T.; Resau, J. H.; Meyerson, M. (2005). "The Parafibromin Tumor Suppressor Protein is Part of a Human Paf1 Complex". Molecular and Cellular Biology. 25 (2): 612–620. doi:10.1128/MCB.25.2.612-620.2005. PMC 543415. PMID 15632063.
Warner, M. H.; Roinick, K. L.; Arndt, K. M. (2007). "Rtf1 is a Multifunctional Component of the Paf1 Complex That Regulates Gene Expression by Directing Cotranscriptional Histone Modification". Molecular and Cellular Biology. 27 (17): 6103–6115. doi:10.1128/MCB.00772-07. PMC 1952162. PMID 17576814.
De Jong, R. N.; Truffault, V.; Diercks, T.; Ab, E.; Daniels, M. A.; Kaptein, R.; Folkers, G. E. (2008). "Structure and DNA Binding of the Human Rtf1 Plus3 Domain". Structure. 16 (1): 149–159. doi:10.1016/j.str.2007.10.018. hdl:1874/33204. PMID 18184592.
Nordick, K.; Hoffman, M. G.; Betz, J. L.; Jaehning, J. A. (2008). "Direct Interactions between the Paf1 Complex and a Cleavage and Polyadenylation Factor Are Revealed by Dissociation of Paf1 from RNA Polymerase II". Eukaryotic Cell. 7 (7): 1158–1167. doi:10.1128/EC.00434-07. PMC 2446681. PMID 18469135.
Lango Allen, H.; Estrada, K.; Lettre, G.; Berndt, S. I.; Weedon, M. N.; Rivadeneira, F.; Willer, C. J.; Jackson, A. U.; Vedantam, S.; Raychaudhuri, S.; Ferreira, T.; Wood, A. R.; Weyant, R. J.; Segrè, A. V.; Speliotes, E. K.; Wheeler, E.; Soranzo, N.; Park, J. H.; Yang, J.; Gudbjartsson, D.; Heard-Costa, N. L.; Randall, J. C.; Qi, L.; Vernon Smith, A.; Mägi, R.; Pastinen, T.; Liang, L.; Heid, I. M.; Luan, J. A.; et al. (2010). "Hundreds of variants clustered in genomic loci and biological pathways affect human height". Nature. 467 (7317): 832–838. doi:10.1038/nature09410. PMC 2955183. PMID 20881960.
Nagase, T.; Seki, N.; Ishikawa, K.; Ohira, M.; Kawarabayasi, Y.; Ohara, O.; Tanaka, A.; Kotani, H.; Miyajima, N.; Nomura, N. (1996). "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain". DNA Research. 3 (5): 321–329, 341–329. doi:10.1093/dnares/3.5.321. PMID 9039502.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000137815 - Ensembl, maj 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027304 - 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.

[entrez-5] 1 2 "Entrez Gene: Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)". Pristupljeno 20. 9. 2011.

[6] Nagase, T., Seki, N., Ishikawa, K., Ohira, M., Kawarabayasi, Y., Ohara, O., Tanaka, A., Kotani, H., Miyajima, N., Nomura, N. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. DNA Res. 3: 321-329, 1996. PubMed: 9039502

[7] Warner, M. H., Roinick, K. L., Arndt, K. M. Rtf1 is a multifunctional component of the Paf1 complex that regulates gene expression by directing cotranscriptional histone modification. Molec. Cell. Biol. 27: 6103-6115, 2007. PubMed: 17576814

[''Salmonella''_infection-8] "Salmonella infection data for Pnpo". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-9] "Citrobacter infection data for Pnpo". Wellcome Trust Sanger Institute.

[mgp_reference-10] 1 2 3 4 5 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.

[11] Mouse Resources Portal, Wellcome Trust Sanger Institute.

[allele_ref-12] "International Knockout Mouse Consortium". Arhivirano s originala, 3. 4. 2012. Pristupljeno 18. 7. 2021.

[mgi_allele_ref-13] "Mouse Genome Informatics".

[pmid21677750-14] Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.

[mouse_library-15] Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-16] Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.

[pmid21722353-17] van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

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