POLR1E

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

POLR1E
Identifiers
AliasesPOLR1E, PAF53, PRAF1, polymerase (RNA) I subunit E, RNA polymerase I subunit E, A49, RPA49
External IDsMGI: 1929022 HomoloGene: 41486 GeneCards: POLR1E
Orthologs
SpeciesHumanMouse
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 MbChr 4: 45.02 – 45.04 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse


Model organisms

Model organisms have been used in the study of POLR1E function. A conditional knockout mouse line, called Polr1etm1a(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
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