POLR1E

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

DNA-directed RNA polymerase I subunit RPA49 is an enzyme that in humans is encoded by the POLR1E gene.

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
Citrobacter infection	Normal
All tests and analysis from

Model organisms have been used in the study of POLR1E function. A conditional knockout mouse line, called Polr1e^{tm1a(KOMP)Wtsi} 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.

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty seven tests were carried out on mutant mice and two significant abnormalities were observed. 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.

Interactions

POLR1E has been shown to interact with CD3EAP and POLR1C.

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.
• 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. 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.
• 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.
• 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.