7szc

Structural highlights

Disease

PRPK_HUMAN Galloway-Mowat syndrome. The disease is caused by variants affecting the gene represented in this entry.

Function

PRPK_HUMAN Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (PubMed:22912744, PubMed:27903914). The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37 (PubMed:22912744, PubMed:27903914). TP53RK has ATPase activity in the context of the EKC/KEOPS complex and likely plays a supporting role to the catalytic subunit OSGEP (By similarity). Atypical protein kinase that phosphorylates 'Ser-15' of p53/TP53 protein and may therefore participate in its activation (PubMed:11546806).[UniProtKB:P53323][UniProtKB:Q9UYB9]^{[1] [2] [3]}

References

1. ↑ Abe Y, Matsumoto S, Wei S, Nezu K, Miyoshi A, Kito K, Ueda N, Shigemoto K, Hitsumoto Y, Nikawa J, Enomoto Y. Cloning and characterization of a p53-related protein kinase expressed in interleukin-2-activated cytotoxic T-cells, epithelial tumor cell lines, and the testes. J Biol Chem. 2001 Nov 23;276(47):44003-11. Epub 2001 Sep 6. PMID:11546806 doi:http://dx.doi.org/10.1074/jbc.M105669200
2. ↑ Costessi A, Mahrour N, Sharma V, Stunnenberg R, Stoel MA, Tijchon E, Conaway JW, Conaway RC, Stunnenberg HG. The human EKC/KEOPS complex is recruited to Cullin2 ubiquitin ligases by the human tumour antigen PRAME. PLoS One. 2012;7(8):e42822. doi: 10.1371/journal.pone.0042822. Epub 2012 Aug 13. PMID:22912744 doi:http://dx.doi.org/10.1371/journal.pone.0042822
3. ↑ Wan LC, Maisonneuve P, Szilard RK, Lambert JP, Ng TF, Manczyk N, Huang H, Laister R, Caudy AA, Gingras AC, Durocher D, Sicheri F. Proteomic analysis of the human KEOPS complex identifies C14ORF142 as a core subunit homologous to yeast Gon7. Nucleic Acids Res. 2017 Jan 25;45(2):805-817. doi: 10.1093/nar/gkw1181. Epub 2016, Nov 29. PMID:27903914 doi:http://dx.doi.org/10.1093/nar/gkw1181