UniProt:Q969Y2 GTPBP3

chain
  • transit peptide:1-20
  • chain:21-492
checksum F39EA7990A1F6494
comment
  • FUNCTION GTPase component of the GTPBP3-MTO1 complex that catalyzes the 5-taurinomethyluridine (taum(5)U) modification at the 34th wobble position (U34) of mitochondrial tRNAs (mt-tRNAs), which plays a role in mt-tRNA decoding and mitochondrial translation (PubMed:29390138, PubMed:33619562). Taum(5)U formation on mammalian mt-tRNA requires the presence of both GTPBP3-mediated GTPase activity and MTO1 catalytic activity (PubMed:29390138).CATALYTIC ACTIVITY GTP + H2O = GDP + phosphate + H(+)COFACTOR Forms a homodimer in the presence of potassium.BIOPHYSICOCHEMICAL PROPERTIES kcat is 1.49 min(-1) with GTP as substrate (PubMed:33619562).SUBUNIT Homodimer; forms a dimer in the presence of potassium (PubMed:33619562). Interacts with MTO1; forms the GTPBP3-MTO1 complex composed of homodimers of GTPBP3 and MTO1 (PubMed:29390138, PubMed:33619562).SUBUNIT Homodimer, forms homodimer in vivo.INTERACTION Ubiquitously expressed.POLYMORPHISM Val-250 variation may influence aminoglycoside-induced deafness (AID) [MIM:580000]. AID is characterized by deafness, varying from profond congenital hearing loss to normal hearing, and is caused by homoplasmic A1555G mutation in the mitochondrial 12S rRNA. Val-250 may affect the accuracy of codon-anticodon interaction, leading to modulate the translational efficiency and thereby affecting the severity of deafness in patients homozygous for 12S rRNA A1555G mutation.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. TrmE GTPase family.
created [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference
databaseName UniProt
dbId 231345
description
  • recommendedName: fullName evidence="14"5-taurinomethyluridine-[tRNA] synthase subunit GTPB3, mitochondrial ecNumber evidence="10 11"3.6.1.- alternativeName: fullName evidence="12"GTP-binding protein 3 alternativeName: Mitochondrial GTP-binding protein 1 alternativeName: tRNA modification GTPase GTPBP3, mitochondrial
displayName UniProt:Q969Y2 GTPBP3
geneName
  • GTPBP3
  • MTGP1
identifier Q969Y2
isSequenceChanged false
keyword
  • Alternative splicing
  • Cardiomyopathy
  • Cytoplasm
  • Direct protein sequencing
  • Disease variant
  • GTP-binding
  • Hydrolase
  • Mitochondrion
  • Nucleotide-binding
  • Primary mitochondrial disease
  • Proteomics identification
  • Reference proteome
  • Transit peptide
  • tRNA processing
modified [InstanceEdit:9948485] Weiser, Joel, 2025-05-21
moleculeType Protein
name
  • GTPBP3
otherIdentifier
  • 11724991_a_at
  • 11724992_x_at
  • 11733958_a_at
  • 11733959_x_at
  • 11753176_a_at
  • 1555062_PM_s_at
  • 1555062_s_at
  • 16859493
  • 213835_PM_x_at
  • 213835_x_at
  • 3824227
  • 3824228
  • 3824229
  • 3824230
  • 3824231
  • 3824232
  • 3824233
  • 3824234
  • 3824235
  • 3824236
  • 3824237
  • 3824238
  • 3824239
  • 3824240
  • 3824241
  • 3824242
  • 3824243
  • 3824244
  • 3824245
  • 3824246
  • 3824247
  • 3824248
  • 3824249
  • 3824250
  • 3824251
  • 3824252
  • 3824253
  • 3824254
  • 3824255
  • 3824256
  • 3824257
  • 3824258
  • 8026735
  • 84705
  • A_14_P139182
  • A_23_P28068
  • GE83456
  • GO:0000166
  • GO:0002098
  • GO:0003924
  • GO:0005515
  • GO:0005525
  • GO:0005634
  • GO:0005737
  • GO:0005739
  • GO:0006399
  • GO:0006400
  • GO:0008033
  • GO:0016787
  • GO:0030488
  • GO:0070899
  • GO:0140053
  • GO:0160236
  • GO:1990234
  • HMNXSV003043297
  • Hs.246112.3.S1_3p_at
  • Hs2.334885.3.S1_3p_s_at
  • ILMN_1686587
  • ILMN_1748894
  • ILMN_1777156
  • PH_hs_0016491
  • PH_hs_0040701
  • TC19000333.hg
  • p26068
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • GTPB3_HUMAN
  • A6NFH1
  • A6NIG5
  • A6NKR4
  • A8K7B4
  • B7Z4V8
  • Q8TCY6
  • Q8WUW9
  • Q969G4
  • Q9BX61
sequenceLength 492
species [Species:48887] Homo sapiens
stId uniprot:Q969Y2
url http://purl.uniprot.org/uniprot/Q969Y2

Referrals

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