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This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. The encoded protein may also play a role in the expression of the non-syndromic and aminoglycoside-induced deafness phenotypes associated with a specific mutation in the mitochondrial 12S rRNA gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
MTO1 (Mitochondrial TRNA Translation Optimization 1) is a Protein Coding gene. Diseases associated with MTO1 include Combined Oxidative Phosphorylation Deficiency 10 and Mitochondrial Oxidative Phosphorylation Disorder. Among its related pathways are tRNA processing and Gene Expression. Gene Ontology (GO) annotations related to this gene include flavin adenine dinucleotide binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | HDA | 22681889 |
GO:0050660 | flavin adenine dinucleotide binding | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IBA | 21873635 |
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 | IEA,IBA | 21873635 |
GO:0008033 | tRNA processing | IEA | -- |
GO:0030488 | tRNA methylation | IBA | 21873635 |
GO:0070899 | mitochondrial tRNA wobble uridine modification | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
FAD | Approved | Pharma | 0 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | · | 7d | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP16: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP17: |
ExUns: | 14b | · | 14c | · | 14d | · | 14e | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19a | · | 19b | · | 19c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||
SP5: | |||||||||||||||||||||||
SP6: | |||||||||||||||||||||||
SP7: | |||||||||||||||||||||||
SP8: | |||||||||||||||||||||||
SP9: | - | - | - | - | - | ||||||||||||||||||
SP10: | - | - | |||||||||||||||||||||
SP11: | |||||||||||||||||||||||
SP12: | |||||||||||||||||||||||
SP13: | |||||||||||||||||||||||
SP14: | |||||||||||||||||||||||
SP15: | |||||||||||||||||||||||
SP16: | |||||||||||||||||||||||
SP17: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MTO1 30 |
|
||
Dog (Canis familiaris) |
Mammalia | MTO1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MTO1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mto1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mto1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | MTO1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MTO1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MTO1 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | mto1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG4610 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007661 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | F52H3.2 30 31 32 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A00935g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MTO1 30 31 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR255W 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT2G13440 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.7119 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0960300 30 |
|
||
Os.37762 30 |
|
||||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU11170 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPBC30B4.06c 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638475 | Pathogenic: Combined oxidative phosphorylation deficiency 10 | 73,461,947(+) | GC/G | FRAMESHIFT_VARIANT | |
638476 | Uncertain Significance: Combined oxidative phosphorylation deficiency 10 | 73,480,372(+) | G/A | INTRON_VARIANT | |
641163 | Uncertain Significance: Combined oxidative phosphorylation deficiency 10 | 73,482,493(+) | G/A | MISSENSE_VARIANT | |
648030 | Uncertain Significance: Combined oxidative phosphorylation deficiency 10 | 73,497,885(+) | C/T | MISSENSE_VARIANT | |
648658 | Uncertain Significance: Combined oxidative phosphorylation deficiency 10 | 73,461,951(+) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2676283 | CNV | deletion | 23128226 |
esv2763576 | CNV | gain | 21179565 |
esv3576177 | CNV | gain | 25503493 |
esv3609511 | CNV | loss | 21293372 |
nsv1120157 | OTHER | inversion | 24896259 |
nsv473211 | CNV | novel sequence insertion | 20440878 |
nsv823733 | CNV | loss | 20364138 |
nsv830693 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
combined oxidative phosphorylation deficiency 10 |
|
|
mitochondrial oxidative phosphorylation disorder |
|
|
combined oxidative phosphorylation deficiency |
|
|
lactic acidosis |
|
|
tuberculum sellae meningioma |
|
|