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 thi... See more...

Aliases for MTO1 Gene

Aliases for MTO1 Gene

  • Mitochondrial TRNA Translation Optimization 1 2 3 5
  • Protein MTO1 Homolog, Mitochondrial 3 4
  • Mitochondrial Translation Optimization 1 Homolog (S. Cerevisiae) 2
  • Mitochondrial Translation Optimization 1 Homolog 3
  • Homolog Of Yeast Mto1 3
  • Mitochondrial MTO1-3 3
  • EC 1.1.1.40 52
  • EC 6.3.5 52
  • COXPD10 3
  • CGI-02 3

External Ids for MTO1 Gene

Previous GeneCards Identifiers for MTO1 Gene

  • GC06P074129
  • GC06P074167
  • GC06P074228
  • GC06P074171
  • GC06P071369

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 Oxidative Phosphorylation Disorder. Among its related pathways are Gene Expression and tRNA processing. Gene Ontology (GO) annotations related to this gene include flavin adenine dinucleotide binding.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for MTO1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTO1 Gene

Genomics for MTO1 Gene

GeneHancer (GH) Regulatory Elements for MTO1 Gene

Promoters and enhancers for MTO1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTO1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTO1

Genomic Locations for MTO1 Gene

Genomic Locations for MTO1 Gene
chr6:73,461,578-73,509,236
(GRCh38/hg38)
Size:
47,659 bases
Orientation:
Plus strand
chr6:74,171,301-74,218,959
(GRCh37/hg19)
Size:
47,659 bases
Orientation:
Plus strand

Genomic View for MTO1 Gene

Genes around MTO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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; Evidence={ECO:0000305}; Sequence=AAH05808.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for MTO1 Gene

neXtProt entry for MTO1 Gene

Selected DME Specific Peptides for MTO1 Gene

Q9Y2Z2:
  • TIRDVSL
  • VIGLETH

Post-translational modifications for MTO1 Gene

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

Domains & Families for MTO1 Gene

Gene Families for MTO1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MTO1 Gene

Blocks:
  • Glucose-inhibited division protein, A family
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MTO1 Gene

GenScript: Design optimal peptide antigens:
  • Mitochondrial translation optimization 1 homolog (S. cerevisiae) (A2A6U7_HUMAN)
  • Protein MTO1 homolog, mitochondrial (MTO1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y2Z2

UniProtKB/Swiss-Prot:

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

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

Phenotypes From GWAS Catalog for MTO1 Gene

Gene Ontology (GO) - Molecular Function for MTO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0050660 flavin adenine dinucleotide binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with MTO1: view
genes like me logo Genes that share phenotypes with MTO1: view

Human Phenotype Ontology for MTO1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for MTO1

CRISPR Products

miRNA for MTO1 Gene

miRTarBase miRNAs that target MTO1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTO1

Clone Products

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

Localization for MTO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTO1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTO1 gene
Compartment Confidence
mitochondrion 4
nucleus 3
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MTO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
genes like me logo Genes that share ontologies with MTO1: view

Pathways & Interactions for MTO1 Gene

PathCards logo

SuperPathways for MTO1 Gene

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

Pathways by source for MTO1 Gene

Gene Ontology (GO) - Biological Process for MTO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002098 tRNA wobble uridine modification IBA 21873635
GO:0008033 tRNA processing IEA --
GO:0030488 tRNA methylation IBA 21873635
GO:0070899 mitochondrial tRNA wobble uridine modification IBA 21873635
genes like me logo Genes that share ontologies with MTO1: view

No data available for SIGNOR curated interactions for MTO1 Gene

Drugs & Compounds for MTO1 Gene

(1) Drugs for MTO1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
genes like me logo Genes that share compounds with MTO1: view

Transcripts for MTO1 Gene

mRNA/cDNA for MTO1 Gene

3 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTO1

Clone Products

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

Expression for MTO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTO1 Gene

Protein differential expression in normal tissues from HIPED for MTO1 Gene

This gene is overexpressed in Liver, secretome (58.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTO1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTO1

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.

Evidence on tissue expression from TISSUES for MTO1 Gene

  • Spleen(4.3)
  • Nervous system(3.6)
  • Intestine(2.3)
  • Muscle(2.1)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MTO1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
Abdomen:
  • adrenal gland
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with MTO1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for MTO1 Gene

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 30
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia MTO1 31 30
  • 89.55 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MTO1 31 30
  • 89.31 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mto1 17 31 30
  • 84.81 (n)
rat
(Rattus norvegicus)
Mammalia Mto1 30
  • 84.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 81 (a)
OneToMany
-- 31
  • 74 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MTO1 31
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTO1 31 30
  • 70.68 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTO1 31
  • 59 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mto1 31 30
  • 55.57 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG4610 31 32 30
  • 57.17 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007661 30
  • 55.36 (n)
worm
(Caenorhabditis elegans)
Secernentea F52H3.2 31 32 30
  • 54.63 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A00935g 30
  • 53.19 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MTO1 31 30
  • 52.56 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR255W 30
  • 50.54 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G13440 30
  • 49.95 (n)
soybean
(Glycine max)
eudicotyledons Gma.7119 30
rice
(Oryza sativa)
Liliopsida Os01g0960300 30
  • 49.73 (n)
Os.37762 30
bread mold
(Neurospora crassa)
Ascomycetes NCU11170 30
  • 51.01 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC30B4.06c 30
  • 50.69 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
OneToOne
Species where no ortholog for MTO1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MTO1: view image

Paralogs for MTO1 Gene

(5) SIMAP similar genes for MTO1 Gene using alignment to 9 proteins:

  • MTO1_HUMAN
  • E5RFF7_HUMAN
  • E7EWI1_HUMAN
  • E7EWX0_HUMAN
  • E9PHR8_HUMAN
  • H0YB81_HUMAN
  • H0YBI9_HUMAN
  • H0YC00_HUMAN
  • H7C2S9_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTO1 Gene

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

Additional dbSNP identifiers (rs#s) for MTO1 Gene

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

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

Variation tolerance for MTO1 Gene

Residual Variation Intolerance Score: 9.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.04; 37.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTO1 Gene

Human Gene Mutation Database (HGMD)
MTO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTO1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTO1 Gene

Disorders for MTO1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for MTO1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MTO1 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for MTO1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MTO1: view

No data available for Genatlas for MTO1 Gene

Publications for MTO1 Gene

  1. Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. (PMID: 22608499) Ghezzi D … Zeviani M (American journal of human genetics 2012) 2 3 4 54
  2. Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment. (PMID: 19338775) de Moraes VC … Sartorato EL (Biochemical and biophysical research communications 2009) 3 23 41 54
  3. 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 … Guan MX (The Journal of biological chemistry 2002) 2 3 4 54
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  5. Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study. (PMID: 19209188) Reiling E … Dekker JM (European journal of human genetics : EJHG 2009) 3 41 54

Products for MTO1 Gene

Sources for MTO1 Gene