| Structural highlights
Disease
RPAC1_HUMAN Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome;Treacher-Collins syndrome. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.
Function
RPAC1_HUMAN DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and short non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs, respectively. POLR1C/RPAC1 is part of the polymerase core and may function as a clamp element that moves to open and close the cleft.[UniProtKB:P07703][1] [2] [3] [4] [5]
See Also
References
- ↑ Canella D, Praz V, Reina JH, Cousin P, Hernandez N. Defining the RNA polymerase III transcriptome: Genome-wide localization of the RNA polymerase III transcription machinery in human cells. Genome Res. 2010 Jun;20(6):710-21. PMID:20413673 doi:10.1101/gr.101337.109
- ↑ Zhao D, Liu W, Chen K, Wu Z, Yang H, Xu Y. Structure of the human RNA polymerase I elongation complex. Cell Discov. 2021 Oct 20;7(1):97. PMID:34671025 doi:10.1038/s41421-021-00335-5
- ↑ Misiaszek AD, Girbig M, Grötsch H, Baudin F, Murciano B, Lafita A, Müller CW. Cryo-EM structures of human RNA polymerase I. Nat Struct Mol Biol. 2021 Dec;28(12):997-1008. PMID:34887565 doi:10.1038/s41594-021-00693-4
- ↑ Daiß JL, Pilsl M, Straub K, Bleckmann A, Höcherl M, Heiss FB, Abascal-Palacios G, Ramsay EP, Tlučková K, Mars JC, Fürtges T, Bruckmann A, Rudack T, Bernecky C, Lamour V, Panov K, Vannini A, Moss T, Engel C. The human RNA polymerase I structure reveals an HMG-like docking domain specific to metazoans. Life Sci Alliance. 2022 Sep 1;5(11):e202201568. PMID:36271492 doi:10.26508/lsa.202201568
- ↑ Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates JR 3rd, Coulombe B, Bernard G. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nat Commun. 2015 Jul 7;6:7623. PMID:26151409 doi:10.1038/ncomms8623
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