GTPBP3
Description
The GTPBP3 (GTP binding protein 3, mitochondrial) is a protein-coding gene located on chromosome 19.
GTPBP3 is a human gene located on chromosome 19 that encodes a mitochondrial GTP-binding protein involved in tRNA modification. This protein is highly conserved across species, from bacteria to mammals. It plays a role in modifying the wobble position of five mitochondrial tRNAs, specifically by catalyzing the formation of 5-taurinomethyluridine (τm(5)U). GTPBP3 exists in at least two major isoforms due to alternative splicing. A polymorphism at valine 250 is known and may affect aminoglycoside-induced deafness. GTPBP3 has 10 exons and encodes a ~44 kDa protein. The N-terminal domain mediates protein dimerization, which is thought to be essential for its tRNA modification activity. Mutations in the yeast homolog of GTPBP3, MSS1, lead to respiratory defects in yeast, particularly when the mitochondrial 155 rRNA P(R)454 is present. This is similar to the human 12 rRNA A1555G mutation, which is associated with deafness, suggesting that GTPBP3 and its yeast homolog are involved in modifying mitochondrial function. GTPBP3 is ubiquitously expressed in multiple tissues and is thought to modify codon-anticodon interactions, potentially influencing the severity of phenotypes associated with the 12S rRNA A1555G mutation.
GTPBP3 is also known as COXPD23, GTPBG3, MSS1, MTGP1, THDF1.
