Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MTO1 Gene

Aliases for MTO1 Gene

  • Mitochondrial TRNA Translation Optimization 1 2 3
  • COXPD10 3 6
  • Mitochondrial Translation Optimization 1 Homolog (S. Cerevisiae) 2
  • Mitochondrial Translation Optimization 1 Homolog 3
  • Protein MTO1 Homolog, Mitochondrial 3
  • Homolog Of Yeast Mto1 3
  • Mitochondrial MTO1-3 3
  • EC 1.1.1.40 64
  • EC 6.3.5 64
  • CGI-02 3

External Ids for MTO1 Gene

Summaries for MTO1 Gene

Entrez Gene Summary for MTO1 Gene

  • 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]

GeneCards Summary for MTO1 Gene

MTO1 (Mitochondrial TRNA Translation Optimization 1) is a Protein Coding gene. Diseases associated with MTO1 include combined oxidative phosphorylation deficiency 10 and mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mto1 deficiency. GO annotations related to this gene include flavin adenine dinucleotide binding.

UniProtKB/Swiss-Prot for MTO1 Gene

  • Involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs.

Gene Wiki entry for MTO1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTO1 Gene

Genomics for MTO1 Gene

Genomic Location for MTO1 Gene

Start:
73,461,578 bp from pter
End:
73,509,236 bp from pter
Size:
47,659 bases
Orientation:
Plus strand

Genomic View for MTO1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MTO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTO1 Gene

No data available for Regulatory Elements for MTO1 Gene

Proteins for MTO1 Gene

  • Protein details for MTO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2Z2-MTO1_HUMAN
    Recommended name:
    Protein MTO1 homolog, mitochondrial
    Protein Accession:
    Q9Y2Z2
    Secondary Accessions:
    • B3KQB5
    • Q5SWL2
    • Q5SWL3
    • Q5SWL4
    • Q8NDN7
    • Q8WZ57
    • Q96FE6
    • Q9BS06

    Protein attributes for MTO1 Gene

    Size:
    717 amino acids
    Molecular mass:
    79964 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD27712.1; Type=Frameshift; Positions=9; Evidence={ECO:0000305}; Sequence=AAH05808.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for MTO1 Gene

neXtProt entry for MTO1 Gene

Proteomics data for MTO1 Gene at MOPED

Selected DME Specific Peptides for MTO1 Gene

Post-translational modifications for MTO1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys227, Lys297, Lys321, Lys516, Lys555, and Lys275

Domains for MTO1 Gene

Protein Domains for MTO1 Gene

UniProtKB/Swiss-Prot:

MTO1_HUMAN
Family:
  • Belongs to the MnmG family.:
    • Q9Y2Z2
genes like me logo Genes that share domains with MTO1: view

No data available for Gene Families for MTO1 Gene

Function for MTO1 Gene

Molecular function for MTO1 Gene

UniProtKB/Swiss-Prot Function: Involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs.

Enzyme Numbers (IUBMB) for MTO1 Gene

Gene Ontology (GO) - Molecular Function for MTO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity --
GO:0044822 poly(A) RNA binding IDA 22681889
GO:0050660 flavin adenine dinucleotide binding IEA --
genes like me logo Genes that share ontologies with MTO1: view

miRNA for MTO1 Gene

miRTarBase miRNAs that target MTO1

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for MTO1 Gene

Localization for MTO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTO1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MTO1 Gene COMPARTMENTS Subcellular localization image for MTO1 gene
Compartment Confidence
mitochondrion 3
cytosol 2
nucleus 2
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MTO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with MTO1: view

Pathways for MTO1 Gene

SuperPathways for MTO1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MTO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002098 tRNA wobble uridine modification --
GO:0008033 tRNA processing --
GO:0055114 oxidation-reduction process IEA --
GO:0070899 mitochondrial tRNA wobble uridine modification IEA --
genes like me logo Genes that share ontologies with MTO1: view

No data available for Pathways by source for MTO1 Gene

Compounds for MTO1 Gene

(1) HMDB Compounds for MTO1 Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
genes like me logo Genes that share compounds with MTO1: view

Transcripts for MTO1 Gene

Unigene Clusters for MTO1 Gene

Mitochondrial translation optimization 1 homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MTO1 Gene

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:

Relevant External Links for MTO1 Gene

GeneLoc Exon Structure for
MTO1
ECgene alternative splicing isoforms for
MTO1

Expression for MTO1 Gene

mRNA expression in normal human tissues for MTO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MTO1 Gene

SOURCE GeneReport for Unigene cluster for MTO1 Gene Hs.347614

mRNA Expression by UniProt/SwissProt for MTO1 Gene

Q9Y2Z2-MTO1_HUMAN
Tissue specificity: Ubiquitously expressed in various tissues, but with a markedly elevated expression in tissues of high metabolic rates including cochlea.
genes like me logo Genes that share expressions with MTO1: view

Orthologs for MTO1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MTO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTO1 36
  • 99.36 (n)
  • 99.04 (a)
cow
(Bos Taurus)
Mammalia MTO1 36
  • 89.31 (n)
  • 88.87 (a)
MTO1 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTO1 36
  • 89.55 (n)
  • 89.31 (a)
MTO1 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mto1 36
  • 84.81 (n)
  • 87.71 (a)
Mto1 16
Mto1 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTO1 37
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 74 (a)
OneToMany
-- 37
  • 81 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mto1 36
  • 84.19 (n)
  • 86.75 (a)
chicken
(Gallus gallus)
Aves MTO1 36
  • 70.68 (n)
  • 74.58 (a)
MTO1 37
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTO1 37
  • 59 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mto1 36
  • 55.57 (n)
  • 53.19 (a)
mto1 37
  • 52 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007661 36
  • 55.36 (n)
  • 58.44 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4610 36
  • 57.17 (n)
  • 58.13 (a)
CG4610 37
  • 54 (a)
OneToOne
CG4610 38
  • 54 (a)
worm
(Caenorhabditis elegans)
Secernentea F52H3.2 36
  • 54.63 (n)
  • 52.55 (a)
F52H3.2 37
  • 50 (a)
OneToOne
F52H3.2 38
  • 49 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR255W 36
  • 50.54 (n)
  • 46.61 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MTO1 36
  • 52.56 (n)
  • 49.92 (a)
MTO1 37
  • 45 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A00935g 36
  • 53.19 (n)
  • 48.7 (a)
soybean
(Glycine max)
eudicotyledons Gma.7119 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G13440 36
  • 49.95 (n)
  • 42.95 (a)
rice
(Oryza sativa)
Liliopsida Os.37762 36
Os01g0960300 36
  • 49.73 (n)
  • 43.91 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU11170 36
  • 51.01 (n)
  • 48.72 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC30B4.06c 36
  • 50.69 (n)
  • 45.99 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 50 (a)
OneToOne
Species with no ortholog for MTO1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MTO1 Gene

ENSEMBL:
Gene Tree for MTO1 (if available)
TreeFam:
Gene Tree for MTO1 (if available)

Paralogs for MTO1 Gene

genes like me logo Genes that share paralogs with MTO1: view

No data available for Paralogs for MTO1 Gene

Variants for MTO1 Gene

Sequence variations from dbSNP and Humsavar for MTO1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs10728 -- 73,500,906(+) TATAT(G/T)AAAAA utr-variant-3-prime, downstream-variant-500B
rs514582 -- 73,492,090(-) GTCTC(A/G)CTCTG intron-variant
rs516203 -- 73,491,953(-) GGCTA(A/T)TTTTT intron-variant
rs523883 -- 73,463,000(-) CCAAA(A/G)GGCAT intron-variant
rs532959 -- 73,489,795(-) atata(C/T)gcaaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTO1 Gene

Variant ID Type Subtype PubMed ID
nsv830693 CNV Loss 17160897
nsv886158 CNV Gain 21882294
nsv823733 CNV Loss 20364138
esv2676283 CNV Deletion 23128226

Relevant External Links for MTO1 Gene

HapMap Linkage Disequilibrium report
MTO1
Human Gene Mutation Database (HGMD)
MTO1

Disorders for MTO1 Gene

(1) OMIM Diseases for MTO1 Gene (614667)

UniProtKB/Swiss-Prot

MTO1_HUMAN
  • Combined oxidative phosphorylation deficiency 10 (COXPD10) [MIM:614702]: An autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases. {ECO:0000269 PubMed:22608499}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for MTO1 Gene

Relevant External Links for MTO1

Genetic Association Database (GAD)
MTO1
Human Genome Epidemiology (HuGE) Navigator
MTO1
genes like me logo Genes that share disorders with MTO1: view

Publications for MTO1 Gene

  1. Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment. (PMID: 19338775) de Moraes V.C. … Sartorato E.L. (Biochem. Biophys. Res. Commun. 2009) 3 23 49
  2. Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation. (PMID: 12011058) Li X.M. … Guan M.-X. (J. Biol. Chem. 2002) 2 3 4
  3. Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. (PMID: 22608499) Ghezzi D. … Zeviani M. (Am. J. Hum. Genet. 2012) 2 3 4
  4. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai C.-H. … Lin W.-C. (Genome Res. 2000) 3 4
  5. Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. (PMID: 15542390) Bykhovskaya Y. … Fischel-Ghodsian N. (Mol. Genet. Metab. 2004) 3 23

Products for MTO1 Gene

Sources for MTO1 Gene

Back to Top

Content