Modomics - A Database of RNA Modifications

Full name: pseudouridine synthase 7
Synonym: FLJ20485
GI: None
Orf:
COG:
UniProt:
Structures: | Q96PZ0 |
Complex:
Enzyme type: pseudouridine synthase
Position of modification - modification:

Comments:



Protein sequence:

>sp|Q96PZ0|PUS7_HUMANPseudouridylatesynthase7homologOS=HomosapiensOX=9606GN=PUS7PE=1SV=2MEMTEMTGVSLK
RGALVVEDNDSGVPVEETKKQKLSECSLTKGQDGLQNDFLSISEDVPRPPDTVSTGKGGKNSEAQLEDEEEEEEDGLSEECEEEESESFADMMKHGLTEA
DVGITKFVSSHQGFSGILKERYSDFVVHEIGKDGRISHLNDLSIPVDEEDPSEDIFTVLTAEEKQRLEELQLFKNKETSVAIEVIEDTKEKRTIIHQAIK
SLFPGLETKTEDREGKKYIVAYHAAGKKALANPRKHSWPKSRGSYCHFVLYKENKDTMDAINVLSKYLRVKPNIFSYMGTKDKRAITVQEIAVLKITAQR
LAHLNKCLMNFKLGNFSYQKNPLKLGELQGNHFTVVLRNITGTDDQVQQAMNSLKEIGFINYYGMQRFGTTAVPTYQVGRAILQNSWTEVMDLILKPRSG
AEKGYLVKCREEWAKTKDPTAALRKLPVKRCVEGQLLRGLSKYGMKNIVSAFGIIPRNNRLMYIHSYQSYVWNNMVSKRIEDYGLKPVPGDLVLKGATAT
YIEEDDVNNYSIHDVVMPLPGFDVIYPKHKIQEAYREMLTADNLDIDNMRHKIRDYSLSGAYRKIIIRPQNVSWEVVAYDDPKIPLFNTDVDNLEGKTPP
VFASEGKYRALKMDFSLPPSTYATMAIREVLKMDTSIKNQTQLNTTWLR


Diseases connected to this enzyme:

Description Reaction Disease Name
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

Publications:

Title Authors Journal Details PubMed Id DOI
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 -

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