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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]
GTPBP3 (GTP Binding Protein 3, Mitochondrial) is a Protein Coding gene. Diseases associated with GTPBP3 include Combined Oxidative Phosphorylation Deficiency 23 and Deafness, Autosomal Recessive 26. Among its related pathways are tRNA processing and Gene Expression. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is ERAL1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003924 | GTPase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0005525 | GTP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005739 | mitochondrion | IBA,IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | tRNA processing |
.55
|
|
2 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002098 | tRNA wobble uridine modification | IBA | 21873635 |
GO:0006400 | tRNA modification | IEA | -- |
GO:0008033 | tRNA processing | IEA | -- |
GO:0030488 | tRNA methylation | IBA | 21873635 |
GO:0048568 | embryonic organ development | IBA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: |
ExUns: | 10c | · | 10d | ^ | 11a | · | 11b | · | 11c |
---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||
SP2: | |||||||||
SP3: | |||||||||
SP4: | |||||||||
SP5: | |||||||||
SP6: | |||||||||
SP7: | |||||||||
SP8: | |||||||||
SP9: | |||||||||
SP10: | |||||||||
SP11: | |||||||||
SP12: | |||||||||
SP13: | |||||||||
SP14: | |||||||||
SP15: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GTPBP3 31 |
|
OneToOne | |
LOC748414 30 |
|
||||
Dog (Canis familiaris) |
Mammalia | GTPBP3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GTPBP3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gtpbp3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Gtpbp3 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GTPBP3 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | mdo-mir-7295 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LOC100857447 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gtpbp3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gtpbp3 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG18528 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002133 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | F39B2.7 30 31 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ABR063C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MSS1 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E07657g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G78010 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU04149 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | mss1 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.7936 30 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
642459 | Pathogenic: not provided | 17,339,490(+) | G/T | NONSENSE | |
669174 | Likely Benign: not provided | 17,338,047(+) | C/T | SYNONYMOUS_VARIANT | |
669491 | Benign: not provided | 17,337,851(+) | T/C | INTRON_VARIANT | |
669942 | Benign: not provided | 17,339,769(+) | C/T | INTRON_VARIANT | |
672549 | Benign: not provided | 17,340,790(+) | T/C | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
combined oxidative phosphorylation deficiency 23 |
|
|
deafness, autosomal recessive 26 |
|
|
lactic acidosis |
|
|
myopathy, lactic acidosis, and sideroblastic anemia 2 |
|
|
hypertrophic cardiomyopathy |
|
|