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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| GTP binding protein 3, mitochondrial | MIM:608536 | Ensembl:ENSG00000130299 | HGNC:HGNC:14880 | PA134883205 | 19p13.11 |
GO terms in GTPBP3
| 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 |
| CC | IDA | GO:0005739 | mitochondrion |
| MF | IEA | GO:0003924 | GTPase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005525 | GTP binding |
Gene expression in normal tissue: GTPBP3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GTPBP3
| 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 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GTPBP3
CLASSFICATION
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