GTPBP3

Summary: This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
NameGTP binding protein 3, mitochondrial
OMIM IDMIM:608536
Ensembl IDEnsembl:ENSG00000130299
HGNC IDHGNC:HGNC:14880
PHARMGKB IDPA134883205
Map Location19p13.11

GO terms in GTPBP3


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Term Type
Evidence Type
GO Term ID
GO Des.
BP IBA GO:0002098 tRNA wobble uridine modification
BP IEA GO:0006400 tRNA modification
BP IBA GO:0030488 tRNA methylation
BP IBA GO:0048568 embryonic organ development
CC IBA GO:0005737 cytoplasm
CC IBA GO:0005739 mitochondrion
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Gene expression in normal tissue: GTPBP3

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in GTPBP3


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Database
Pathway ID
Pathway Des.
reactome R-HSA-6787450 tRNA modification in the mitochondrion
reactome R-HSA-72306 tRNA processing
reactome R-HSA-8953854 Metabolism of RNA
wikipathways WP2004 miR-targeted genes in lymphocytes - TarBase
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD353 PD0325901 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in GTPBP3

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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