Full name: | Pseudouridylate synthase 7 homolog |
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Synonym: | FLJ20485 |
GI: | 970414574 |
UniProt: | Q96PZ0 |
Structures: | | 5KKP | |
Alpha Fold Predicted Structure: | AF-Q96PZ0-F1 |
Enzyme type: | pseudouridine synthase |
Title: | |
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Classification: | |
Technique: | |
Pdb Files | 5KKP.pdb   |
Pdbx/mmCIF Files | 5KKP.cif   |
MEMTEMTGVSLKRGALVVEDNDSGVPVEETKKQKLSECSLTKGQDGLQNDFLSISEDVPRPPDTVSTGKGGKNSEAQLEDEEEEEEDGLSEECEEEESESFADMMKHGLTEADVGITKFVSSHQGFSGILKERYSDFVVHEIGKDGRISHLNDLSIPVDEEDPSEDIFTVLTAEEKQRLEELQLFKNKETSVAIEVIEDTKEKRTIIHQAIKSLFPGLETKTEDREGKKYIVAYHAAGKKALANPRKHSWPKSRGSYCHFVLYKENKDTMDAINVLSKYLRVKPNIFSYMGTKDKRAITVQEIAVLKITAQRLAHLNKCLMNFKLGNFSYQKNPLKLGELQGNHFTVVLRNITGTDDQVQQAMNSLKEIGFINYYGMQRFGTTAVPTYQVGRAILQNSWTEVMDLILKPRSGAEKGYLVKCREEWAKTKDPTAALRKLPVKRCVEGQLLRGLSKYGMKNIVSAFGIIPRNNRLMYIHSYQSYVWNNMVSKRIEDYGLKPVPGDLVLKGATATYIEEDDVNNYSIHDVVMPLPGFDVIYPKHKIQEAYREMLTADNLDIDNMRHKIRDYSLSGAYRKIIIRPQNVSWEVVAYDDPKIPLFNTDVDNLEGKTPPVFASEGKYRALKMDFSLPPSTYATMAIREVLKMDTSIKNQTQLNTTWLR
Alpha Fold Pdb Files | AF-Q96PZ0-F1.pdb   |
Alpha Fold Pdbx/mmCIF Files | AF-Q96PZ0-F1.cif   |
DSSP Secondary Structures | Q96PZ0.dssp   |
Description | Reaction | Disease Name |
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Pseudouridylation level on snRNA U2 depends on expression level of scaRNA1that is linked with TOF | U:Y | Tetralogy of Fallot (TOF) |
PUS7 mutations result in decreased levels of Ψ13 modifications in tRNAs | U:Y | Intellectual disability and progressive microcephaly |
Variants in PUS7 cause the loss of function on pseudouridylation of mRNAs and tRNAs that leads intellectual disabilities. | U:Y | Intellectual disability |
Title | Authors | Journal | Details | ||
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Pseudouridylation of tRNA-Derived Fragments Steers Translational Control in Stem Cells. | Guzzi N, Ciesla M, Ngoc PCT, Lang S, Arora S, Dimitriou M, Pimkova K, Sommarin MNE, Munita R, Lubas M, Lim Y, Okuyama K, Soneji S, Karlsson G, Hansson J, Jonsson G, Lund AH, Sigvardsson M, Hellstrom-Lindberg E, Hsieh AC, Bellodi C... | Cell | [details] | 29628141 | - |