RTF1

Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) is a protein that in humans is encoded by the RTF1 gene.[5]

RTF1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2BZE, 2DB9, 3U1U, 4L1P, 4L1U
Identifiers
Aliases	RTF1, GTL7, KIAA0252, RTF1 homolog, Paf1/RNA polymerase II complex component
External IDs	OMIM: 611633 MGI: 1309480 HomoloGene: 133868 GeneCards: RTF1
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q15.1 Start 41,408,408 bp[1] End 41,483,563 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 E5 Start 119,675,068 bp[2] End 119,735,407 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding • single-stranded DNA binding • DNA binding • RNA polymerase II C-terminal domain phosphoserine binding • RNA binding Cellular component • nucleolus • cell nucleus • Cdc73/Paf1 complex • nucleoplasm Biological process • blastocyst growth • histone modification • 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 signaling pathway • positive regulation of transcription from RNA polymerase II promoter • negative regulation of transcription from RNA polymerase II promoter • stem cell population maintenance • endodermal cell fate commitment • transcription from RNA polymerase II promoter • transcription elongation from RNA polymerase II promoter • protein ubiquitination Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	23168	76246
Ensembl	ENSG00000137815	ENSMUSG00000027304
UniProt	Q92541	A2AQ19
RefSeq (mRNA)	NM_015138	NM_030112
RefSeq (protein)	NP_055953	NP_084388
Location (UCSC)	Chr 15: 41.41 – 41.48 Mb	Chr 2: 119.68 – 119.74 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

This locus may represent a gene involved in regulation of transcription elongation and chromatin remodeling, based on studies of similar proteins in other organisms. The encoded protein may bind single-stranded DNA.[5]

Model organisms

Rtf1 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
DEXA	Normal
Radiography	Abnormal[6]
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Brain histopathology	Normal
Salmonella infection	Normal[7]
Citrobacter infection	Normal[8]
All tests and analysis from[9][10]

Model organisms have been used in the study of RTF1 function. A conditional knockout mouse line, called Rtf1^{tm1a(KOMP)Wtsi}[11][12] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[13][14][15]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[9][16] Twenty four tests were carried out on mutant mice and three significant abnormalities were observed.[9] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; vertebral fusion was observed in male animals.[9]

References

1. GRCh38: Ensembl release 89: ENSG00000137815 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000027304 - Ensembl, May 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. "Entrez Gene: Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)". Retrieved 2011-09-20.
6. "Radiography data for Rtf1". Wellcome Trust Sanger Institute.
7. "Salmonella infection data for Rtf1". Wellcome Trust Sanger Institute.
8. "Citrobacter infection data for Rtf1". Wellcome Trust Sanger Institute.
9. 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.
10. Mouse Resources Portal, Wellcome Trust Sanger Institute.
11. "International Knockout Mouse Consortium".
12. "Mouse Genome Informatics".
13. 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.
14. Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
15. 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.
16. 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.

Further reading

• 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. 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.