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GTPBP3 (show GTPBP3 Antibodies) defective expression is associated with an mitochondrial-tRNA hypomodification status.GTPBP3 plays a role in the regulation of UCP2 (show UCP2 Antibodies) and MCP1 (show CCL2 Antibodies) proteins through AMPK (show PRKAA1 Antibodies) signaling.
Results show that post-transcriptional expression of GTPBP3 (show GTPBP3 Antibodies), MTO1 and TRMU (show TRMU Antibodies) genes is down-regulated, leading to mt-tRNA hypomodification and contributing to mitochondrial dysfunction in MELAS cybrids.
Most individuals with GTPBP3 (show GTPBP3 Antibodies) mutations developed neurological symptoms and MRI (show C7ORF49 Antibodies) involvement of thalamus, putamen, and brainstem resembling Leigh syndrome.
GTPBP3 localizes in the mitochondria and is a deafness-associated homolog of yeast MSS1.
Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3 (show GTPBP3 Antibodies).
Data show that the two most abundant GTPBP3 (show GTPBP3 Antibodies) isoforms exhibit moderate affinity for guanine nucleotides like their bacterial homologue, MnmE, although they hydrolyze GTP (show AK3 Antibodies) at a 100-fold lower rate.
structural determinants for the binding of ubiquitin-like domains to 26s proteasome (show Psmd4 Antibodies)
The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits\; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit has been shown to interact with several of the basal transcription factors so, in addition to participation in proteasome functions, this subunit may participate in the regulation of transcription. This subunit may also compete with PSMC3 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
26S protease regulatory subunit 7
, 26S proteasome ATPase 2 subunit
, 26S proteasome AAA-ATPase subunit RPT1
, proteasome 26S subunit ATPase 2
, mitochondrial GTP-binding protein 1
, tRNA modification GTPase GTPBP3, mitochondrial
, mammalian suppressor of sgv-1 of yeast
, protease 26S subunit 7
, proteasome 26S subunit, ATPase, 2
, putative protein product of Nbla10058
, proteasome (prosome, macropain) 26S subunit, ATPase 2