Full name: tRNA pseudouridine(38/39) synthase
Synonym:
GI: 199559784
Orf: FKSG32
COG:
UniProt:
Structures: | |
Complex:
Enzyme type: pseudouridine synthase
Position of modification - modification:

Comments:



Protein sequence:

MAYNDTDRNQTEKLLKRVRELEQEVQRLKKEQAKNKEDSNIRENSAGAGKTKRAFDFSAHGRRHVALRIAYMGWGYQGFASQENTNNTIEEKLFEALTKT
RLVESRQTSNYHRCGRTDKGVSAFGQVISLDLRSQFPRGRDSEDFNVKEEANAAAEEIRYTHILNRVLPPDIRILAWAPVEPSFSARFSCLERTYRYFFP
RADLDIVTMDYAAQKYVGTHDFRNLCKMDVANGVINFQRTILSAQVQLVGQSPGEGRWQEPFQLCQFEVTGQAFLYHQVRCMMAILFLIGQGMEKPEIID
ELLNIEKNPQKPQYSMAVEFPLVLYDCKFENVKWIYDQEAQEFNITHLQQLWANHAVKTHMLYSMLQGLDTVPVPCGIGPKMDGMTEWGNVKPSVIKQTS
AFVEGVKMRTYKPLMDRPKCQGLESRIQHFVRRGRIEHPHLFHEEETKAKRDCNDTLEEENTNLETPTKRVCVDTEIKSII


Diseases connected to this enzyme:

Description Reaction Disease Name
A significant reduction in post-transcriptional pseudouridine modification of tRNA in patient cells has occurred. U:Y
Intellectual disability

Publications:

Title Authors Journal Details PubMed Id DOI
A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. Shaheen R, Han L, Faqeih E, Ewida N, Alobeid E, Phizicky EM, Alkuraya FS Hum Genet. [details] 27055666 10.1007/s00439-016-1665-7

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