POLR1E

POLR1E
Identifiers
Aliases	POLR1E , PAF53, PRAF1, polymerase (RNA) I subunit E, RNA polymerase I subunit E, A49, RPA49
External IDs	MGI: 1929022 HomoloGene: 41486 GeneCards: POLR1E
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9p13.2 Start 37,485,948 bp [1] End 37,503,697 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4|4 B1 Start 45,018,583 bp [2] End 45,036,565 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas Achilles tendon secondary oocyte ganglionic eminence left uterine tube canal of the cervix gastrocnemius muscle islet of Langerhans smooth muscle tissue ascending aorta Top expressed in otic placode saccule spermatocyte morula primitive streak spermatid neural tube cumulus cell atrioventricular valve endocardial cushion More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-directed 5'-3' RNA polymerase activity DNA binding RNA polymerase I general transcription initiation factor binding RNA polymerase I activity Cellular component nucleus nucleoplasm fibrillar center nucleolus RNA polymerase I complex Biological process transcription initiation from RNA polymerase I promoter termination of RNA polymerase I transcription epigenetic maintenance of chromatin in transcription-competent conformation transcription, DNA-templated RNA polymerase I preinitiation complex assembly transcription elongation from RNA polymerase I promoter Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64425 64424 Ensembl ENSG00000137054 ENSMUSG00000028318 UniProt Q9GZS1 Q8K202 RefSeq (mRNA) NM_001282766 NM_022490 NM_001285800 NM_022811 RefSeq (protein) NP_001269695 NP_071935 NP_001272729 NP_073722 Location (UCSC) Chr 9: 37.49 – 37.5 Mb Chr 4: 45.02 – 45.04 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

DNA-directed RNA polymerase I subunit RPA49 is an enzyme that in humans is encoded by the POLR1E gene. ^{[5] [6]}

Model organisms

Polr1e 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
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Tail epidermis wholemount	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Eye 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 POLR1E function. A conditional knockout mouse line, called Polr1e^{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 seven tests were carried out on mutant mice and two 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; no additional significant abnormalities were observed in these animals. ^[9]

Interactions

POLR1E has been shown to interact with CD3EAP ^[17] and POLR1C. ^{[18] [17] [19]}

References

1. GRCh38: Ensembl release 89: ENSG00000137054 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028318 - 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. Hanada K, Song CZ, Yamamoto K, Yano K, Maeda Y, Yamaguchi K, Muramatsu M (May 1996). "RNA polymerase I associated factor 53 binds to the nucleolar transcription factor UBF and functions in specific rDNA transcription". The EMBO Journal. 15 (9): 2217–26. doi:10.1002/j.1460-2075.1996.tb00575.x. PMC   450146 . PMID   8641287.
6. "Entrez Gene: POLR1E polymerase (RNA) I polypeptide E, 53kDa".
7. "Salmonella infection data for Polr1e". Wellcome Trust Sanger Institute.
8. "Citrobacter infection data for Polr1e". 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. S2CID   85911512.
10. Mouse Resources Portal, Wellcome Trust Sanger Institute.
11. "International Knockout Mouse Consortium".
12. "Mouse Genome Informatics".
13. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC   3572410 . PMID   21677750.
14. Dolgin E (Jun 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 (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi: 10.1016/j.cell.2006.12.018 . PMID   17218247. S2CID   18872015.
16. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi: 10.1186/gb-2011-12-6-224 . PMC   3218837 . PMID   21722353.
17. Yamamoto K, Yamamoto M, Hanada K, Nogi Y, Matsuyama T, Muramatsu M (Jul 2004). "Multiple protein-protein interactions by RNA polymerase I-associated factor PAF49 and role of PAF49 in rRNA transcription". Molecular and Cellular Biology. 24 (14): 6338–49. doi:10.1128/MCB.24.14.6338-6349.2004. PMC   434256 . PMID   15226435.
18. Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC   1847948 . PMID   17353931.
19. Seither P, Zatsepina O, Hoffmann M, Grummt I (Sep 1997). "Constitutive and strong association of PAF53 with RNA polymerase I". Chromosoma. 106 (4): 216–25. doi:10.1007/s004120050242. PMID   9254723. S2CID   23487728.

Further reading

• Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Seither P, Zatsepina O, Hoffmann M, Grummt I (Sep 1997). "Constitutive and strong association of PAF53 with RNA polymerase I". Chromosoma. 106 (4): 216–25. doi:10.1007/s004120050242. PMID   9254723. S2CID   23487728.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Voit R, Grummt I (Nov 2001). "Phosphorylation of UBF at serine 388 is required for interaction with RNA polymerase I and activation of rDNA transcription". Proceedings of the National Academy of Sciences of the United States of America. 98 (24): 13631–6. Bibcode:2001PNAS...9813631V. doi: 10.1073/pnas.231071698 . PMC   61092 . PMID   11698641.
• Scherl A, Couté Y, Déon C, Callé A, Kindbeiter K, Sanchez JC, Greco A, Hochstrasser D, Diaz JJ (Nov 2002). "Functional proteomic analysis of human nucleolus". Molecular Biology of the Cell. 13 (11): 4100–9. doi:10.1091/mbc.E02-05-0271. PMC   133617 . PMID   12429849.
• Bjerregaard B, Wrenzycki C, Strejcek F, Laurincik J, Holm P, Ochs RL, Rosenkranz C, Callesen H, Rath D, Niemann H, Maddox-Hyttel P (Apr 2004). "Expression of nucleolar-related proteins in porcine preimplantation embryos produced in vivo and in vitro". Biology of Reproduction. 70 (4): 867–76. doi: 10.1095/biolreprod.103.021683 . PMID   14585813.
• Baran V, Pavlok A, Bjerregaard B, Wrenzycki C, Hermann D, Philimonenko VV, Lapathitis G, Hozak P, Niemann H, Motlik J (Apr 2004). "Immunolocalization of upstream binding factor and pocket protein p130 during final stages of bovine oocyte growth". Biology of Reproduction. 70 (4): 877–86. doi:10.1095/biolreprod.103.018408. PMID   14613906. S2CID   43563796.
• Bjerregaard B, Wrenzycki C, Philimonenko VV, Hozak P, Laurincik J, Niemann H, Motlik J, Maddox-Hyttel P (Apr 2004). "Regulation of ribosomal RNA synthesis during the final phases of porcine oocyte growth". Biology of Reproduction. 70 (4): 925–35. doi: 10.1095/biolreprod.103.020941 . PMID   14627545.
• Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G, Croughton K, Cruciat C, Eberhard D, Gagneur J, Ghidelli S, Hopf C, Huhse B, Mangano R, Michon AM, Schirle M, Schlegl J, Schwab M, Stein MA, Bauer A, Casari G, Drewes G, Gavin AC, Jackson DB, Joberty G, Neubauer G, Rick J, Kuster B, Superti-Furga G (Feb 2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nature Cell Biology. 6 (2): 97–105. doi:10.1038/ncb1086. PMID   14743216. S2CID   11683986.
• Yamamoto K, Yamamoto M, Hanada K, Nogi Y, Matsuyama T, Muramatsu M (Jul 2004). "Multiple protein-protein interactions by RNA polymerase I-associated factor PAF49 and role of PAF49 in rRNA transcription". Molecular and Cellular Biology. 24 (14): 6338–49. doi:10.1128/MCB.24.14.6338-6349.2004. PMC   434256 . PMID   15226435.
• Percipalle P, Fomproix N, Cavellán E, Voit R, Reimer G, Krüger T, Thyberg J, Scheer U, Grummt I, Farrants AK (May 2006). "The chromatin remodelling complex WSTF-SNF2h interacts with nuclear myosin 1 and has a role in RNA polymerase I transcription". EMBO Reports. 7 (5): 525–30. doi:10.1038/sj.embor.7400657. PMC   1479564 . PMID   16514417.
• Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC   1847948 . PMID   17353931.