tRNA modification GTPase GTPBP3, mitochondrial; GTP-binding protein 3, mitochondrial GTP-binding protein 1 (GTPBP3, MTGP1)

Function

• GTPase involved in 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs (probable)

Compartment

mitochondrion

Alternative splicing

named isoforms=3

Expression

ubiquitously expressed

Polymorphism

• Val-250 variation may influence aminoglycoside-induced deafness
• Val-250 may affect the accuracy of codon-anticodon interaction

More general terms

• mitochondrial protein
• guanosine triphosphatase (GTPase)

Database

• OMIM: https://mirror.omim.org/entry/580000
• OMIM: https://mirror.omim.org/entry/608536
• UniProt: http://www.uniprot.org/uniprot/Q969Y2.html